Ronaldd J. A. Wanders
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(Suggest an Edit or Addition)Ronaldd J. A. Wanders's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Biochemistry of mammalian peroxisomes revisited. (2006) (871)
- Biochemistry of peroxisomes. (1992) (838)
- The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways. (2010) (755)
- A lethal defect of mitochondrial and peroxisomal fission. (2007) (704)
- A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation (2010) (668)
- Quantification of the contribution of various steps to the control of mitochondrial respiration. (1982) (551)
- α-methylacyl-CoA racemase: A new molecular marker for prostate cancer (2002) (480)
- Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome (1999) (475)
- Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies (2014) (466)
- Carnitine biosynthesis in mammals. (2002) (450)
- The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders. (2016) (357)
- Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. (2000) (350)
- Functions and biosynthesis of plasmalogens in health and disease. (2004) (347)
- Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review (2008) (342)
- Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. (1999) (279)
- Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene (1997) (277)
- Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. (1998) (276)
- Cardiolipin provides an essential activating platform for caspase-8 on mitochondria (2008) (265)
- Human disorders of peroxisome metabolism and biogenesis. (2016) (252)
- A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). (1988) (251)
- Peroxisomal disorders: the single peroxisomal enzyme deficiencies. (2006) (250)
- Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor (1997) (248)
- Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum (2016) (235)
- Proteomics Characterization of Mouse Kidney Peroxisomes by Tandem Mass Spectrometry and Protein Correlation Profiling*S (2007) (214)
- The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters (2008) (209)
- Peroxisomes, lipid metabolism, and peroxisomal disorders. (2004) (207)
- Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment (2010) (203)
- Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. (1984) (189)
- Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene (2003) (189)
- Significantly reduced docosahexaenoic and docosapentaenoic acid concentrations in erythrocyte membranes from schizophrenic patients compared with a carefully matched control group (2001) (187)
- Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact (2018) (187)
- Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. (2004) (187)
- Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. (1984) (186)
- Alpha-methylacyl-CoA racemase: a new molecular marker for prostate cancer. (2002) (182)
- Metabolic functions of peroxisomes in health and disease. (2014) (180)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. (2002) (179)
- The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results (2010) (178)
- Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. (2002) (176)
- X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. (2014) (168)
- Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. (2003) (162)
- Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (1985) (161)
- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) (1999) (159)
- Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. (1988) (158)
- Peroxisomes, lipid metabolism and lipotoxicity. (2010) (156)
- Metabolite transport across the peroxisomal membrane. (2007) (154)
- Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle (2018) (153)
- Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. (1998) (153)
- Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. (1999) (152)
- Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. (2001) (151)
- Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha. (2000) (149)
- Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids. (1988) (148)
- The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy (2010) (147)
- Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation. (2013) (145)
- Alpha-methylacyl-CoA racemase as an androgen-independent growth modifier in prostate cancer. (2003) (145)
- The enigmatic role of tafazzin in cardiolipin metabolism. (2009) (144)
- Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. (1998) (144)
- Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. (2013) (140)
- Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy (2000) (138)
- Identification of PEX7 as the second gene involved in Refsum disease. (2003) (136)
- Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry. (2003) (135)
- Phytanic acid: production from phytol, its breakdown and role in human disease (2006) (134)
- Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. (1997) (133)
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. (1997) (133)
- Only One Splice Variant of the Human TAZ Gene Encodes a Functional Protein with a Role in Cardiolipin Metabolism* (2003) (133)
- Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis Published, JLR Papers in Press, April 1, 2005. DOI 10.1194/jlr.M500056-JLR200 (2005) (129)
- Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. (2009) (128)
- Lipid metabolism in peroxisomes in relation to human disease. (1998) (128)
- Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. (2011) (126)
- Clinical features of galactokinase deficiency:A review of the literature (2003) (124)
- Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil” (1999) (124)
- Mitochondrial long chain fatty acid beta-oxidation in man and mouse. (2009) (123)
- Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation. (2014) (123)
- Clinical implications of mutation analysis in primary hyperoxaluria type 1. (2004) (122)
- L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. (2004) (122)
- A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene (2012) (121)
- Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. (2003) (120)
- Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (1998) (120)
- Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. (2000) (120)
- The peroxisomal ABC transporter family (2007) (119)
- Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids (2012) (118)
- Disorders of mitochondrial fatty acyl-CoA beta-oxidation. (1999) (117)
- Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. (2002) (116)
- Phytanic acid metabolism in health and disease. (2011) (116)
- Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation. (2011) (116)
- Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases. (2001) (116)
- Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: A meta-analysis (2013) (115)
- Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome (1985) (115)
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. (2003) (114)
- Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. (2001) (114)
- A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism (2012) (114)
- Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood (1990) (113)
- Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (2003) (113)
- Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. (1999) (113)
- Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids. (2004) (113)
- Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation* (2015) (112)
- Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism (2000) (110)
- Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. (2004) (110)
- Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. (2008) (110)
- Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth (2010) (109)
- Peroxisomal disorders: a review. (1995) (108)
- Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. (2006) (107)
- MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. (2003) (106)
- Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy (2001) (105)
- A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival (2010) (104)
- Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. (2004) (104)
- Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. (2002) (102)
- Identification of human PMP34 as a peroxisomal ATP transporter. (2002) (101)
- ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. (2014) (101)
- The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. (2004) (101)
- Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria. (1995) (100)
- Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. (2010) (99)
- Ataxia with loss of Purkinje cells in a mouse model for Refsum disease (2008) (99)
- Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. (1996) (99)
- Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. (2002) (98)
- Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse. (2005) (98)
- A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. (2015) (97)
- Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage. (2005) (96)
- Plasmalogens participate in very-long-chain fatty acid-induced pathology. (2008) (96)
- PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation. (2007) (95)
- New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA. (2011) (95)
- Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. (2002) (94)
- Long-Chain Fatty Acid Oxidation during Early Human Development (2005) (93)
- A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis. (2009) (93)
- Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. (1986) (92)
- Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands (2003) (92)
- The metabolism of phytanic acid and pristanic acid in man: A review (1998) (92)
- Bile acids: the role of peroxisomes (2009) (91)
- Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. (1997) (91)
- Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. (2005) (91)
- Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts (1995) (91)
- Alkyl-Glycerol Rescues Plasmalogen Levels and Pathology of Ether-Phospholipid Deficient Mice (2011) (91)
- Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. (2005) (89)
- Biochemical and genetic aspects of mevalonate kinase and its deficiency. (2000) (89)
- Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. (2001) (88)
- Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. (1998) (88)
- Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination. (2014) (88)
- Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes. (1997) (88)
- Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders. (1987) (87)
- Peroxisomal disorders: A newly recognised group of genetic diseases (1986) (84)
- Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. (1999) (84)
- Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. (2003) (83)
- The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey (2013) (83)
- Factors determining the relative contribution of the adenine-nucleotide translocator and the ADP-regenerating system to the control of oxidative phosphorylation in isolated rat-liver mitochondria. (1984) (82)
- Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients (2004) (82)
- The chemical biology of branched-chain lipid metabolism. (2003) (80)
- ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism (2016) (80)
- Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. (2003) (79)
- Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. (1996) (78)
- Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. (2006) (78)
- Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (2001) (77)
- Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis. (2010) (77)
- Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors. (1988) (77)
- 3-Methylglutaconic aciduria type I is caused by mutations in AUH. (2002) (77)
- Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. (2000) (77)
- Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (1994) (76)
- Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. (2007) (76)
- A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids. (2014) (76)
- Infantile Refsum disease: an inherited peroxisomal disorder (1987) (75)
- Peroxisomal Fatty Acid Uptake Mechanism in Saccharomyces cerevisiae* (2012) (75)
- The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts. (1985) (74)
- Mevalonate kinase deficiency and Dutch type periodic fever. (2000) (74)
- Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene (2010) (74)
- The peroxisomal lumen in Saccharomyces cerevisiae is alkaline (2004) (73)
- X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. (2007) (72)
- Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder (1994) (72)
- Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient. (2013) (72)
- Phytanic acid alpha-oxidation, new insights into an old problem: a review. (2003) (71)
- Regulation of Isoprenoid/Cholesterol Biosynthesis in Cells from Mevalonate Kinase-deficient Patients* (2003) (71)
- Molecular and Biochemical Characterization of Rat γ-Trimethylaminobutyraldehyde Dehydrogenase and Evidence for the Involvement of Human Aldehyde Dehydrogenase 9 in Carnitine Biosynthesis* (2000) (71)
- A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. (2002) (71)
- Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. (2000) (70)
- Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders. (1992) (70)
- Mutations in PEX10 are a cause of autosomal recessive ataxia (2010) (70)
- Muscle acylcarnitines during short-term fasting in lean healthy men. (2009) (69)
- Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome (2015) (69)
- L-pipecolate oxidase: a distinct peroxisomal enzyme in man. (1989) (69)
- Preadipocytes of type 2 diabetes subjects display an intrinsic gene expression profile of decreased differentiation capacity (2011) (69)
- Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency. (2005) (69)
- Neonatal screening for defects of the mitochondrial trifunctional protein. (2005) (69)
- Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. (2007) (68)
- Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. (1999) (67)
- Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. (2003) (67)
- Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway (2010) (67)
- A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. (2002) (67)
- The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. (2009) (66)
- Monocarboxylate transporter 1 deficiency and ketone utilization. (2014) (66)
- PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. (1999) (66)
- Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome. (1985) (66)
- Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency (1999) (65)
- Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. (2006) (65)
- Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism. (2013) (65)
- OCTN3 is a mammalian peroxisomal membrane carnitine transporter. (2005) (64)
- Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite. (2012) (64)
- A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. (2015) (64)
- Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy (2010) (63)
- Heterozygosity for the Common LCHAD Mutation (1528G>C) Is Not a Major Cause of HELLP Syndrome and the Prevalence of the Mutation in the Dutch Population Is Low (2000) (63)
- Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency (2012) (62)
- Molecular and functional characterisation of mild MCAD deficiency (2001) (61)
- Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene (2011) (61)
- Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls (2000) (61)
- Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment. (2003) (60)
- A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR) (2009) (60)
- Mevalonate kinase is a cytosolic enzyme in humans (2004) (59)
- Phytanic acid impairs mitochondrial respiration through protonophoric action (2007) (59)
- High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal-maternal disease (2003) (58)
- Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency (2008) (57)
- Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency (2010) (57)
- Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. (2006) (57)
- Newly Identified Chinese Hamster Ovary Cell Mutants Are Defective in Biogenesis of Peroxisomal Membrane Vesicles (Peroxisomal Ghosts), Representing a Novel Complementation Group in Mammals* (1998) (57)
- The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. (2007) (57)
- Increased mitochondrial content rescues in vivo muscle oxidative capacity in long‐term high‐fat‐diet‐fed rats (2010) (57)
- X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters. (1987) (56)
- Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines (2013) (56)
- Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects. (2013) (56)
- Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy. (2006) (56)
- Neonatal Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: Enzymatic and Molecular Evaluation of Neonates With Elevated C14:1-Carnitine Levels (2006) (56)
- Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans (2013) (55)
- Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect (1993) (55)
- Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2 (2003) (55)
- Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. (1990) (55)
- Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. (2015) (55)
- Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. (2000) (55)
- Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders. (1987) (55)
- Peroxisomal beta-oxidation of polyunsaturated long chain fatty acids in human fibroblasts. The polyunsaturated and the saturated long chain fatty acids are retroconverted by the same acyl-CoA oxidase. (1993) (54)
- Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome. (1986) (54)
- Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. (2002) (53)
- Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans. (2000) (53)
- Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. (2015) (53)
- Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS (2019) (53)
- Studies on phytanic acid α-oxidation in rat liver and cultured human skin fibroblasts (1993) (53)
- Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia (2002) (53)
- Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. (2014) (53)
- Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids (2009) (52)
- Metabolic interactions between peroxisomes and mitochondria with a special focus on acylcarnitine metabolism. (2020) (52)
- Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. (1999) (52)
- Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (1993) (51)
- Characteristic Acylcarnitine Profiles in Inherited Defects of Peroxisome Biogenesis: A Novel Tool for Screening Diagnosis Using Tandem Mass Spectrometry (2003) (51)
- Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. (2004) (51)
- 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease (2005) (51)
- Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency (2015) (51)
- Analysis of the control of citrulline synthesis in isolated rat-liver mitochondria. (1984) (50)
- Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. (2005) (50)
- Postnatal diagnosis of peroxisomal disorders: a biochemical approach. (1993) (50)
- A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase. (2018) (50)
- Toxicity of peroxisomal C27-bile acid intermediates. (2009) (49)
- Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta. (1994) (49)
- Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes. (2001) (49)
- Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation. (2007) (49)
- Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA. (1997) (49)
- The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (1996) (49)
- 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation. (1998) (49)
- Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. (2017) (48)
- Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (2009) (48)
- Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. (2002) (47)
- Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy. (2017) (47)
- Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution. (2018) (47)
- Developmental Changes of Bile Acid Composition and Conjugation in L- and D-Bifunctional Protein Single and Double Knockout Mice* (2005) (47)
- Phosphomevalonate kinase is a cytosolic protein in humans Published, JLR Papers in Press, January 16, 2004. DOI 10.1194/jlr.M300373-JLR200 (2004) (47)
- Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios[S] (2016) (47)
- Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. (1999) (46)
- The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2. (1998) (46)
- Functional significance of the two ACOX1 isoforms and their crosstalks with PPARα and RXRα (2010) (46)
- Tissue Carnitine Homeostasis in Very-Long-Chain Acyl-CoA Dehydrogenase–Deficient Mice (2005) (46)
- Hydrogen Sulfide Donor NaHS Reduces Organ Injury in a Rat Model of Pneumococcal Pneumosepsis, Associated with Improved Bio-Energetic Status (2013) (45)
- Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria (2015) (45)
- Latency of the peroxisomal enzyme acyl-CoA:dihydroxyacetonephosphate acyltransferase in digitonin-permeabilized fibroblasts: the effect of ATP and ATPase inhibitors. (1990) (45)
- L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism. (2006) (45)
- Design, synthesis, and in vitro testing of alpha-methylacyl-CoA racemase inhibitors. (2007) (45)
- Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. (1986) (45)
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man (2002) (44)
- Regulation of sterol carrier protein gene expression by the Forkhead transcription factor FOXO3a Published, JLR Papers in Press, October 16, 2003. DOI 10.1194/jlr.M300111-JLR200 (2004) (44)
- Conclusive evidence that very-long-chain fatty acids are oxidized exclusively in peroxisomes in human skin fibroblasts. (1991) (44)
- Identification of superoxide dismutase in rat liver peroxisomes. (1992) (44)
- Pyruvate dehydrogenase complex plays a central role in brown adipocyte energy expenditure and fuel utilization during short-term beta-adrenergic activation (2018) (44)
- A case of methemoglobinemia type II due to NADH‐cytochrome b5 reductase deficiency: Determination of the molecular basis (2000) (43)
- Metabolism of phytol to phytanic acid in the mouse, and the role of PPARalpha in its regulation. (2007) (43)
- Functional analysis of mutant human carnitine acylcarnitine translocases in yeast. (2001) (43)
- Kinetics of the assembly of peroxisomes after fusion of complementary cell lines from patients with the cerebro-hepato-renal (Zellweger) syndrome and related disorders. (1988) (43)
- Topography of very-long-chain-fatty-acid-activating activity in peroxisomes from rat liver. (1991) (43)
- Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes. (2002) (42)
- Bicarbonate and the pathway of glutamate oxidation in isolated rat-liver mitochondria. (1983) (42)
- Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by human ACOX1b isoform [corrected]. (2010) (42)
- Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation (2012) (42)
- Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry. (2002) (42)
- Studies on the peroxisomal oxidation of palmitate and lignocerate in rat liver. (1987) (42)
- Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites. (2001) (42)
- Fatal Hepatic Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Clinical, Biochemical, and Pathological Studies on Three Subjects with This Recently Identified Disorder of Mitochondrial β-Oxidation (1999) (41)
- Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase. (2002) (41)
- Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method. (1986) (41)
- Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome. (1988) (41)
- Fatty acid oxidation in the human fetus: Implications for fetal and adult disease (2006) (41)
- Intra-Familial Clinical Heterogeneity: Absence of Genotype-Phenotype Correlation in Primary Hyperoxaluria Type 1 in Israel (2005) (41)
- 2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome. (1994) (41)
- Functional redundancy of mitochondrial enoyl‐CoA isomerases in the oxidation of unsaturated fatty acids (2012) (41)
- Peroxisomes in human health and disease: metabolic pathways, metabolite transport, interplay with other organelles and signal transduction. (2013) (40)
- Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. (1992) (39)
- Lovastatin in X-linked adrenoleukodystrophy. (2010) (39)
- Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome (2001) (39)
- Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping (2006) (38)
- Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency. (2006) (38)
- Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver. (1992) (38)
- The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders (2016) (38)
- Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans (2009) (38)
- Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders. (1992) (38)
- Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro (1997) (38)
- Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders (2016) (38)
- Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria. (1996) (37)
- Differential effect of valproate and its Delta2- and Delta4-unsaturated metabolites, on the beta-oxidation rate of long-chain and medium-chain fatty acids. (2001) (37)
- Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients (1995) (37)
- The Peroxisomal NAD Carrier from Arabidopsis Imports NAD in Exchange with AMP1[OPEN] (2016) (37)
- 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency (2003) (36)
- Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid. (2004) (36)
- Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling. (2010) (36)
- Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria (2010) (36)
- Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria. (1998) (36)
- Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes. (1999) (36)
- A re-evaluation of conditions required for an accurate estimation of the extramitochondrial ATP/ADP ratio in isolated rat-liver mitochondria. (1984) (36)
- Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. (2005) (35)
- Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy (2010) (35)
- Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction (1986) (35)
- Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria (2006) (35)
- Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome. (1987) (35)
- Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (2010) (35)
- Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia. (2011) (35)
- Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome. (1987) (35)
- Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters. (2014) (35)
- 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method. (1988) (35)
- The inborn errors of peroxisomal β-oxidation: A review (1990) (35)
- C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man (2016) (34)
- Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat. (2006) (34)
- Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. (2003) (34)
- A new type of peroxisomal disorder with variable expression in liver and fibroblasts. (1994) (34)
- Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. (2000) (34)
- Evidence for two enzymatic pathways for ω-oxidation of docosanoic acid in rat liver microsomes Published, JLR Papers in Press, February 16, 2005. DOI 10.1194/jlr.M400510-JLR200 (2005) (34)
- Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. (2012) (33)
- Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS. (2001) (33)
- “Role of peroxisomes in human lipid metabolism and its importance for neurological development” (2017) (33)
- Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis. (2015) (33)
- Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (1986) (33)
- Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (1993) (33)
- Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. (2015) (33)
- Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. (2001) (33)
- Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders (2017) (33)
- Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (2001) (32)
- Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient (1998) (32)
- Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. (2017) (32)
- Identification of PEX7 as the second gene involved in Refsum disease. (2003) (32)
- Improving the description of metabolic networks: the TCA cycle as example (2012) (31)
- Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy (2004) (31)
- Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis (1992) (31)
- Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum). (2010) (31)
- Regulation of squalene synthetase activity in rat liver: elevation by cholestyramine, but no diurnal variation. (1986) (31)
- Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder (2013) (31)
- Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency (2018) (31)
- Peroxisomal enzyme activities in the human hepatoblastoma cell line HepG2 as compared to human liver. (1991) (31)
- Bezafibrate for X-Linked Adrenoleukodystrophy (2012) (31)
- Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. (2004) (31)
- Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening (2006) (31)
- Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy. (2017) (30)
- Human mevalonate pyrophosphate decarboxylase is localized in the cytosol. (2004) (30)
- Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome. (2006) (30)
- Real-time nucleic acid sequence-based amplification assay to quantify changes in mitochondrial DNA concentrations in cell cultures and blood cells from HIV-infected patients receiving antiviral therapy. (2006) (30)
- Peroxisomal trans‐2‐enoyl‐CoA reductase is involved in phytol degradation (2006) (30)
- Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae. (2002) (30)
- Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate (2016) (30)
- Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice. (2006) (29)
- Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites. (2012) (29)
- Temperature-Sensitive Mutation of PEX6 in Peroxisome Biogenesis Disorders in Complementation Group C (CG-C): Comparative Study of PEX6 and PEX1 (2000) (29)
- Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid. (2009) (29)
- Studies on the metabolic fate of n-3 polyunsaturated fatty acids Published, JLR Papers in Press, August 1, 2003. DOI 10.1194/jlr.M300223-JLR200 (2003) (28)
- Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency (2010) (28)
- Localization of peroxisomal 3-oxoacyl-CoA thiolase in particles of varied density in rat liver: implications for peroxisome biogenesis. (1995) (28)
- Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study (2012) (28)
- dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase. (2005) (28)
- Control of mitochondrial respiration. (1983) (28)
- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. (1999) (27)
- 2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria. (2000) (27)
- Production and characterisation of monoclonal antibodies against native and disassembled human catalase. (1992) (27)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1991) (27)
- The regulation of catalase activity by PPAR γ is affected by α-synuclein (2014) (27)
- Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis. (2007) (27)
- Relationship between the rate of citrulline synthesis and bulk changes in the intramitochondrial ATP/ADP ratio in rat-liver mitochondria. (1981) (27)
- L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia. (1993) (27)
- Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes. (1999) (26)
- A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome. (2002) (26)
- Modulation of the hepatic fatty acid pool in peroxisomal 3-ketoacyl-CoA thiolase B-null mice exposed to the selective PPARalpha agonist Wy14,643. (2009) (26)
- Phytanoyl-CoA hydroxylase activity is induced by phytanic acid. (2000) (26)
- Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease (1998) (26)
- Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis. (1998) (26)
- Peroxisomal localization of the immunoreactive beta-oxidation enzymes in a neonate with a beta-oxidation defect. Pathological observations in liver, adrenal cortex and kidney. (1991) (26)
- Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (2004) (26)
- An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry. (2007) (26)
- Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. (2008) (25)
- The cerebro‐hepato‐renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens (1985) (25)
- Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome (2000) (25)
- Demonstration of dimethylnonanoyl-CoA thioesterase activity in rat liver peroxisomes followed by purification and molecular cloning of the thioesterase involved. (2002) (25)
- Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver. (1997) (25)
- Increased cardiac fatty acid oxidation in a mouse model with decreased malonyl-CoA sensitivity of CPT1B (2018) (25)
- Demonstration and characterization of phosphate transport in mammalian peroxisomes. (2005) (24)
- Cerebellar hypoplasia in respiratory chain dysfunction. (1996) (24)
- Role of Isovaleryl-CoA Dehydrogenase and Short Branched-Chain Acyl-CoA Dehydrogenase in the Metabolism of Valproic Acid: Implications for the Branched-Chain Amino Acid Oxidation Pathway (2011) (24)
- Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata. (1993) (24)
- A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (2010) (24)
- Bile acid analyses in “pseudo-Zellweger” syndrome; clues to the defect in peroxisomal β-oxidation (1988) (24)
- Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group. (1991) (24)
- β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria (1994) (23)
- Characterization of the Final Step in the Conversion of Phytol into Phytanic Acid* (2005) (23)
- Properties of the ATPase activity associated with peroxisome-enriched fractions from rat liver: comparison with mitochondrial F1F0-ATPase. (1990) (23)
- Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome (2003) (23)
- Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation. (1999) (23)
- L-2-Hydroxyglutaric aciduria and lactic acidosis (1998) (23)
- Beta-oxidation of fatty acids in cultured human skin fibroblasts devoid of the capacity for oxidative phosphorylation. (1994) (23)
- Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata (1986) (23)
- Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1991) (23)
- A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency (2003) (23)
- Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. (2006) (23)
- ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy (1996) (23)
- Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong. (2001) (23)
- Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (1996) (23)
- Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata (2012) (22)
- Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method. (1990) (22)
- Identification of the peroxisomal β-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids Published, JLR Papers in Press, April 1, 2004. DOI 10.1194/jlr.M300512-JLR200 (2004) (22)
- Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging (2010) (22)
- Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment. (2018) (22)
- A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liver. (2011) (22)
- Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature (1997) (22)
- First prenatal diagnosis of acyl-CoA oxidase deficiency (1990) (22)
- Oxidation of very-long-chain fatty acids in rat brain: cerotic acid is beta-oxidized exclusively in rat brain peroxisomes. (1991) (22)
- Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis (2018) (22)
- Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome. (1990) (22)
- Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene (1999) (22)
- Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (2000) (22)
- Long‐chain‐acyl‐CoA synthetase activities in peroxisomes and microsomes from rat liver (1991) (22)
- High incidence of hyperoxaluria in generalized peroxisomal disorders. (2006) (21)
- Valproate induces in vitro accumulation of long-chain fatty acylcarnitines. (2001) (21)
- Studies on the intracellular localization of acetyl-CoA carboxylase. (1997) (21)
- Analysis of Carnitine Esters by Radio-High Performance Liquid Chromatography in Cultured Skin Fibroblasts from Patients with Mitochondrial Fatty Acid Oxidation Disorders (1998) (21)
- PEX1 deficiency presenting as Leber congenital amaurosis. (2004) (21)
- Biosynthesis of ether-phospholipids including plasmalogens, peroxisomes and human disease: new insights into an old problem (2010) (21)
- Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure (2006) (21)
- Subcellular fractionation of cultured normal human melanocytes: new insights into the relationship of melanosomes with lysosomes and peroxisomes. (1993) (21)
- Clinical recognition of patients affected by a peroxisomal disorder: A retrospective study in 40 patients (1992) (21)
- Identification of the newly discovered 58kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: Implications for peroxisomal β-oxidation disorders (1998) (20)
- Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid. (1998) (20)
- Biochemical Analysis in Peroxisomal Disorders (1987) (20)
- Metabolic Aspects of Peroxisomal Disorders (1996) (20)
- Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. (2007) (20)
- Measurement of binding of adenine nucleotides and phosphate to cytosolic proteins in permeabilized rat-liver cells. (1983) (20)
- The Effects of Long‐ or Medium‐Chain Fat Diets on Glucose Tolerance and Myocellular Content of Lipid Intermediates in Rats (2011) (20)
- Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis. (2009) (20)
- Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder (2004) (20)
- Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT‐deficiency) (2000) (20)
- A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry. (2007) (20)
- Prenatal and perinatal diagnosis of peroxisomal disorders (1989) (20)
- Impaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition (2016) (20)
- A Simple Spectrophotometric Assay for Long-Chain Acyl-CoA Dehydrogenase Activity Measurements in Human Skin Fibroblasts (1993) (20)
- Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes (2019) (19)
- Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome (2019) (19)
- Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates (2020) (19)
- Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency. (1998) (19)
- Aminooxy acetic acid: a selective inhibitor of alanine:glyoxylate aminotransferase and its use in the diagnosis of primary hyperoxaluria type I. (1995) (19)
- Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant (2018) (19)
- Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder (2004) (19)
- Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts. (2003) (19)
- Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy. (2008) (19)
- Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation. (2008) (19)
- Carnitine supplementation induces long-chain acylcarnitine production—Studies in the VLCAD-deficient mouse (2006) (19)
- Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights. (2003) (19)
- Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency (2002) (19)
- Comparative profiling of the peroxisomal proteome of wildtype and Pex7 knockout mice by quantitative mass spectrometry (2012) (19)
- Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria. (2004) (19)
- Origin of the ammonia found in protein-free extracts of rat-liver mitochondria and rat hepatocytes. (1980) (19)
- Spontaneous pregnancy in a patient with classical galactosaemia (1999) (18)
- Studies on phytanic acid alpha-oxidation in rat liver and cultured human skin fibroblasts. (1993) (18)
- Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders. (1987) (18)
- Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. (1995) (18)
- A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency (2019) (18)
- Prenatal diagnosis of inborn errors in peroxisomal β‐oxidation (1991) (18)
- Catalase in cultured skin fibroblasts from patients with the cerebro-hepato-renal (Zellweger) syndrome: normal maturation in peroxisome-deficient cells. (1987) (18)
- Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins (1986) (18)
- Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment (2020) (18)
- X-linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect (1992) (18)
- Identification of pristanoyl-CoA oxidase as a distinct, clofibrate non-inducible enzyme in rat liver peroxisomes. (1992) (18)
- Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. (2006) (18)
- Studies on the extra-mitochondrial CoA -ester formation of valproic and Delta4 -valproic acids. (2007) (18)
- Clinical and Laboratory Diagnosis of Peroxisomal Disorders. (2017) (17)
- Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes. (2005) (17)
- Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. (1998) (17)
- Plasmalogens and oxidative stress: evidence against a major role of plasmalogens in protection against the superoxide anion radical (1997) (17)
- Muscular carnitine palmitoyltransferase II deficiency in infancy. (2000) (17)
- Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency (2020) (17)
- Characterisation of recombinant human fatty aldehyde dehydrogenase: Implications for Sjögren-Larsson syndrome (2007) (17)
- Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata — a complementation study (1992) (17)
- The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase (2014) (17)
- Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata (1997) (17)
- Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene (2000) (16)
- The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice. (2016) (16)
- Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans. (2018) (16)
- A new peroxisomal disorder: Di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency (1990) (16)
- Characterization of phytanic acid ω-hydroxylation in human liver microsomes (2005) (16)
- Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies. (1987) (16)
- Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations (1997) (16)
- A new type of chondrodysplasia punctata associated with peroxisomal dysfunction (1991) (15)
- Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics. (2016) (15)
- Demonstration of bile acid transport across the mammalian peroxisomal membrane. (2007) (15)
- A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency Published, JLR Papers in Press, December 1, 2002. DOI 10.1194/jlr.D200039-JLR200 (2003) (15)
- Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay (1994) (15)
- Subcellular localization of squalene synthase in human hepatoma cell line Hep G2. (1992) (15)
- Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: Implications for postnatal detection of the disease (1986) (15)
- Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study (2019) (15)
- Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients (2012) (15)
- Peroxisomal Metabolite and Cofactor Transport in Humans (2021) (15)
- Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder. (2019) (14)
- Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders. (2020) (14)
- Novel genotype of mevalonic aciduria with fatalities in premature siblings (2004) (14)
- Hepatic peroxisomes are smaller in primary hyperoxaluria type I (PH I). (cytochemistry and morphometry) (1989) (14)
- Complementation Analysis of Peroxisomal Diseases by Somatic Cell Fusion (1987) (14)
- First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization. (2006) (14)
- CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids. (2016) (14)
- Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations. (2001) (14)
- Submitochondrial localization of 6‐N‐trimethyllysine dioxygenase − implications for carnitine biosynthesis (2007) (14)
- Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency (2004) (14)
- Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma (2010) (14)
- Rhizomelic chondrodysplasia punctata (1996) (14)
- Chondrodysplasia punctata with a mild clinical course (1994) (14)
- Incidence and molecular mechanism of aberrant splicing owing to a G→C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome (2000) (14)
- Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells (1995) (14)
- A novel assay for the prenatal diagnosis of Sjögren–Larsson syndrome (2005) (14)
- A bifunctional protein with deficient enzymic activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal β-oxidation enzyme activities (1990) (14)
- Factors influencing the latency of the peroxisomal enzyme dihydroxyacetone-phosphate acyltransferase (DHAP-AT) in permeabilized human skin fibroblasts. (1991) (13)
- Studies on the urinary excretion of thromboxane B2 in Zellweger patients and control subjects: evidence for a major role for peroxisomes in the beta-oxidative chain-shortening of thromboxane B2. (1994) (13)
- Increased plasma malondialdehyde associated with cerebellar structural defects (1997) (13)
- Long-chain-acyl-CoA synthetase and very-long-chain-acyl-CoA synthetase activities in peroxisomes and microsomes from rat liver. An enzymological study. (1991) (13)
- Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A beta-oxidation intermediates. (2007) (13)
- Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test. (1985) (13)
- A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells (1986) (13)
- Molecular Mechanism of a Temperature-Sensitive Phenotype in Peroxisomal Biogenesis Disorder (2005) (13)
- Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivo. (2015) (13)
- Mutations in the 3 beta-hydroxysterol Delta ( 24 )-reductase gene cause desmosterolosis , an autosomal recessive disorder of Waterham (2001) (13)
- Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method. (1990) (13)
- Carnitine-acylcarnitine translocase deficiency is a treatable disease (1999) (13)
- Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation. (2005) (13)
- Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting (2005) (13)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder (1994) (12)
- Metabolic functions and biogenesis of peroxisomes in health and disease. (2012) (12)
- An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells (2019) (12)
- Functional significance of the two ACOX1 isoforms and their crosstalks with PPARα and RXRα (2010) (12)
- Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall (2005) (12)
- Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency (2000) (12)
- 118: MULTIPLE PEROXISOMAL ENZYME DEFICIENCIES IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA (1988) (12)
- Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function. (2019) (12)
- Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies. (2020) (12)
- D-bifunctional protein deficiency associated with drug resistant infantile spasms (2007) (12)
- Aberration in de novo ether lipid biosynthesis in peroxisomal disorders. (1988) (11)
- Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family. (1990) (11)
- Bifunctional enzyme deficiency: Identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal β-oxidation of unknown aetiology by means of complementation analysis (1992) (11)
- The Saccharomyces cerevisiae ABC subfamily D transporter Pxa1/Pxa2p co‐imports CoASH into the peroxisome (2020) (11)
- Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders. (1999) (11)
- Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis (1998) (11)
- The energy-linked transhydrogenase in rat liver in relation to the reductive carboxylation of 2-oxoglutarate. (1981) (11)
- Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I. (2004) (11)
- Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. (1998) (11)
- Correction: The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey (2013) (11)
- Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis. (2007) (11)
- Prenatal Diagnosis of Zellweger Syndrome by Direct Visualization of Peroxisomes in Chorionic Villus Fibroblasts by Immunofluorescence Microscopy (1989) (11)
- Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency. (2010) (11)
- Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria (1995) (11)
- A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity (2001) (11)
- Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders (2000) (11)
- Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver. (1999) (11)
- Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects. (2004) (11)
- Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency) (1999) (11)
- First report of prenatal diagnosis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in a pregnancy at risk (1993) (11)
- Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase (2010) (11)
- Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome. (1985) (10)
- Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder. (2019) (10)
- Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (1999) (10)
- Re-Evaluation of Conditions Required for Measurement of True Alanine:Glyoxylate Aminotransferase Activity in Human Liver: Implications for the Diagnosis of Hyperoxaluria Type I (1994) (10)
- Peroxisomal β-oxidation defect with detectable peroxisomes: A case with neonatal onset and progressive course (1990) (10)
- Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry. (2009) (10)
- X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus (1991) (10)
- A fluorimetric assay for acyl-CoA synthetase activities. (1991) (10)
- Carnitine palmityl transferase I deficiency. (2001) (10)
- Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy. (2021) (10)
- Deficient cholesterol side chain oxidation in patients without peroxisomes (Zellweger syndrome): evidence for the involvement of peroxisomes in bile acid synthesis in man. (1987) (10)
- X-linked adrenoleukodystrophy: Identification of the primary defect at the level of a deficient peroxisomal very long chain fatty acyl-CoA synthetase using a newly developed method for the isolation of peroxisomes from skin fibroblasts (1988) (10)
- A new peroxisomal disorder with fetal and neonatal adrenal insufficiency. (1994) (10)
- UvA-DARE ( Digital Academic Repository ) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH 2 gene (2003) (9)
- Acute detachment of hexokinase II from mitochondria modestly increases oxygen consumption of the intact mouse heart. (2017) (9)
- Food withdrawal lowers energy expenditure and induces inactivity in long‐chain fatty acid oxidation–deficient mouse models (2014) (9)
- Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts. (1997) (9)
- Peroxisome mosaics. (2003) (9)
- Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. (2013) (9)
- The inborn errors of peroxisomal beta-oxidation: a review. (1990) (9)
- Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels Published, JLR Papers in Press, December 16, 2002. DOI 10.1194/jlr.M200217-JLR200 (2003) (9)
- The Human TAZ Gene Complements Mitochondrial Dysfunction in the Yeast taz1Δ Mutant (2004) (9)
- A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency (1995) (9)
- Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase. (1994) (9)
- Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes. (2019) (9)
- Peroxisomal functions in Mulibrey nanism (1994) (9)
- Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (1998) (8)
- Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type. (1987) (8)
- A novel cell model to study the function of the adrenoleukodystrophy-related protein. (2006) (8)
- Peroxisomal disorders: Concentrations of metabolites in cerebrospinal fluid compared with plasma (1993) (8)
- Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester (1990) (8)
- An evaluation of the metabolite indicator method for determining the cytosolic phosphate potential in rat liver cells. (1982) (8)
- Identificationn of a Peroxisomal ATP Carrier Required for Medium-Chainn Fatty Acid p-Oxidation and Normal Peroxisome Proliferationn in Saccharomyces cerevisiae (2007) (8)
- Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases (2014) (8)
- Characterization of phytanic acid omega-hydroxylation in human liver microsomes. (2005) (8)
- Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients (2021) (8)
- Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes. (1990) (8)
- Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants (2019) (7)
- Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome (2000) (7)
- IMPAIRED ABILITY OF PEROXISOMES TO ACTIVATE VERY-LONG-CHAIN FATTY ACIDS IN X-LINKED ADRENOLEUKODYSTROPHY (1988) (7)
- Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: Correlation with pyridoxine responsiveness (1988) (7)
- Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect (2021) (7)
- Studies on the effect of fenoprofen on the activation and oxidation of long chain and very long chain fatty acids in hepatocytes and subcellular fractions from rat liver. (1993) (7)
- Identification and characterization of Eci3, a murine kidney‐specific Δ3, Δ2‐enoyl‐CoA isomerase (2014) (7)
- Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3b-Hydroxysterol D 14 -Reductase Deficiency Due to Mutations in the (2003) (7)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings (2000) (7)
- Zellweger syndrome: Biochemical procedures in diagnosis, prevention and treatment (1987) (7)
- Molecular basis of Sjögren-Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patients (1999) (6)
- Clinical , biochemical , and genetic features of four patients with short-chain enoyl-CoA hydratase ( ECHS 1 ) deficiency (2018) (6)
- Identification of pristanoyl-CoA oxidase and phytanic acid decarboxylation in peroxisomes and mitochondria from human liver: Implications for Zellweger syndrome (1991) (6)
- Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia (1988) (6)
- Clinical and biochemical characteristics of peroxisomal disorders: an update (2005) (6)
- Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency. (1999) (6)
- Stability of Alkyl‐Dihydroxyacetonephosphate Synthase in Human Control and Peroxisomal Disorder Fibroblasts (1999) (6)
- Very-Long-Chain Fatty Acids and Phytanic Acid (2008) (6)
- Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium-chain triglycerides (2003) (6)
- Bifunctional protein deficiency: Complementation within the same group suggesting differential enzyme defects and clues to the underlying basis (1998) (6)
- A sibship with a mild variant of Zellweger syndrome (1987) (6)
- Cholesterol biosynthesis in Zellweger syndrome: Normal activity of mevalonate kinase, mevalonate-5′-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver (1996) (6)
- Major hyperpipecolataemia in a normal adult (1996) (6)
- Identification of enzymes involved in oxidation of phenylbutyrate (2017) (6)
- Plasmalogens and Polyunsaturated Fatty Acids (2008) (6)
- Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation (1998) (6)
- Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings (1996) (6)
- Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method (1988) (6)
- Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer. (2020) (6)
- Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts. (1997) (5)
- Molybdenum cofactor deficiency can mimic postanoxic encephalopathy (1993) (5)
- Correction: The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase (2014) (5)
- Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry. (1999) (5)
- Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy. (2019) (5)
- Isolated defect of peroxisomal β-oxidation in a 16-year-old patient (1993) (5)
- VACTERL and hydrocephalus. (1990) (5)
- Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: Aberrant subcellular localization in Zellweger syndrome (1991) (5)
- Heterogeneity in di/Trihydroxycholestanoic Acidaemia (1994) (5)
- Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study (2020) (5)
- Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA β-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines (1997) (5)
- [From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene]. (2006) (5)
- Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA (1998) (5)
- A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids (1997) (5)
- ω-Oxidation of Very Long-chain Fatty Acids in Human Liver Microsomes (2006) (5)
- Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. (2017) (5)
- Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu-292 Stop mutation in 38 patients (1998) (5)
- Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis. (2003) (5)
- SubcellularSubcellular localization and physiological role of a-methylacyl-CoA racemase e (2007) (4)
- Progressive generalized brain atrophy and infantile spasms associated with cytochromec oxidase deficiency (1996) (4)
- Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research (2018) (4)
- Bile acids in amniotic fluid: Promising metabolites for the prenatal diagnosis of peroxisomal disorders (1991) (4)
- Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (2003) (4)
- [Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]. (2008) (4)
- Rapid identification of primary hyperoxaluria type I patients using a novel, fully automated method for measurement of hepatic alanine: Glyoxylate aminotransferase (1994) (4)
- Prenatal diagnosis and confirmation of Infantile Refsum's disease (1987) (4)
- Lipoprotein[a] is not present in the plasma of patients with some peroxisomal disorders. (1997) (4)
- Relapsing encephalopathy in a patient with &agr;-methylacyl-CoA racemase deficiency (2009) (4)
- A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS. (1992) (4)
- Fibroblast‐specific genome‐scale modelling predicts an imbalance in amino acid metabolism in Refsum disease (2019) (4)
- Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency (1994) (4)
- Corrigendum: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency (Human Molecular Genetics (1999) 8 (655-660)) (1999) (4)
- Polyunsaturated fatty acid status in treated isovaleric acidemia patients (2016) (4)
- Functions, Biogenesis and Pathology of Peroxisomes in Man (1989) (4)
- Peroxisomal Fatty Acid β-Oxidation in Relation to Adrenoleukodystrophy (1991) (4)
- Treatment and molecular analysis of neonatal carnitine palmitoyltransferase II deficiency. (1999) (4)
- Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver. (2003) (3)
- Report 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH 2 Gene (2003) (3)
- Identification of the Enzymic Defect in X-Linked Adrenoleukodystrophy: Oxidation of Very Long Chain Fatty Acids is Deficient Due to an Impaired Ability of Peroxisomes to Activate Very Long Chain Fatty Acids (1988) (3)
- Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2-ketophytanic acid from 2-hydroxyphytanic acid and its deficiency in the Zellweger syndrome (1995) (3)
- Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis (1985) (3)
- Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution. (2017) (3)
- CHAPTER 14:Phytanoyl-CoA Hydroxylase: A 2-Oxoglutarate-Dependent Dioxygenase Crucial for Fatty Acid Alpha-Oxidation in Humans (2015) (3)
- Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase. (1999) (3)
- No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis. (2001) (3)
- Ketones and inborn errors of metabolism: old friends revisited (2017) (3)
- [Identification of the gene for hyper-IgD syndrome: a model of modern genetics]. (2000) (3)
- Branched Chain Amino Acid Oxidation Disorders (2015) (3)
- A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification (2022) (3)
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction (1993) (3)
- Peroxisomal Disorders: Biochemical Characteristics and Genetic Relationship Between the Different Diseases (1987) (3)
- Transient decrease of hepatic NAD+ and amino acid alterations during treatment with valproate: new insights on drug-induced effects in vivo using targeted MS-based metabolomics (2016) (3)
- Peroxisomal localization of the immunoreactiveβ-oxidation enzymes in a neonate with aβ-oxidation defect (2005) (3)
- Zellweger syndrome in a preterm, small for gestational age infant (1992) (3)
- Pre- and postnatal diagnosis of the cerebrohepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence of absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts (1986) (3)
- Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies (2018) (3)
- 2-Methyl-3hydroxybutyryl-CoA dehydrogenase deficiency, a new disorder of isoleucine and branced-chain fatty acid degradation: studies on teh forward and reverse reactions (2001) (3)
- A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue. (2016) (3)
- Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome. (1987) (3)
- Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation (2021) (3)
- [Zellweger syndrome and other peroxisomal disorders: II. (Bio)chemical characteristics of a recently discovered group of diseases]. (1990) (2)
- Very long chain fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome (1989) (2)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Neonatal manifestation at the first day of life presenting with tachypnoea (1999) (2)
- Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report (2015) (2)
- Adrenoleukodystrophy and other peroxisomal disorders : clinical, biochemical, genetic and therapeutic aspects : proceedings of the International Workshop on Adrenoleukodystrophy and Peroxisomal Disorders, Rome, 10-11 November 1989 (1990) (2)
- Control mechanisms of energy-dependent metabolic pathways in hepatocytes. (1981) (2)
- Adenine nucleotide translocator deficiency in muscle: Potential therapeutic value of vitamin E (1993) (2)
- Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency (1996) (2)
- A far advanced case of gyrate atrophy in a 12-year-old girl (1991) (2)
- Clinical variability within a sibship with infantile Refsum disease (1993) (2)
- Prenatal diagnosis of inborn errors in peroxisomal beta-oxidation. (1991) (2)
- Essential Fatty Acid Deficiency in Very Long-Chain Acyl-CoA Dehydrogenase Deficient Patients (2015) (2)
- Novel missense mutations in the first Chinese patient with very-long-chain acyl-CoA dehydrogenase deficiency. (2007) (2)
- [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. (1996) (2)
- Regulation of mitochondrial respiration in liver. (1986) (2)
- Functions and biogenesis of peroxisomes in relation to human disease (1995) (2)
- Impaired Maturation of Peroxisomal ß-oxidation Enzymes in Fibroblasts from Patients with the Zellweger Syndrome and Infantile Refsum Disease (1986) (2)
- Erratum: Functional significance of the two ACOX1 isoforms and their crosstalks with PPARα and RXRα (Laboratory Investigation (2010) 90 (696-708) DOI: 10.1038/labinvest.2010.46) (2010) (2)
- FATTY ACIDS IN RECENT ONSET SCHIZOPHRENIA: SIGNIFICANTLY REDUCED DOCOSAHEXAENOIC AND DOCOSAPENTAENOIC ACID CONCENTRATIONS IN ERYTHROCYTE MEMBRANES (2000) (1)
- Natural history study of very-long-chain Acyl-CoA dehydrogenase deficiency in The Netherlands (2011) (1)
- Latency of peroxisomal palmitoyl-CoA beta-oxidation in digitonin permeabilized fibroblasts: the effect of ATP on peroxisomal permeability. (1992) (1)
- Genetic Heterogeneity in Inherited Disorders with a Generalized Impairment of Peroxisomal Functions: Visualization by Immunofluorescence Microscopy of Peroxisome Assembly After Somatic Cell Fusion of Complementary Cell Lines (1989) (1)
- Advances in Brief-Methylacyl-CoA Racemase : A New Molecular Marker for Prostate Cancer 1 (2002) (1)
- Activation and oxidation of pristanic acid in rat liver: identification of a distinct, clofibrate non-inducible pristanoyl-CoA oxidase. (1992) (1)
- A novel secreted endoglycosidase from Enterococcus faecalis with activity on human immunoglobulin G and ribonuclease B. Vol. 279 (2004) 22558-22570 (2004) (1)
- Muscle D-3-hydroxybutyrylcarnitine : an alternative pathway in ketone body metabolism 5 (2008) (1)
- Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver (1997) (1)
- Identificatio nn of the peroxisomal p-oxidation enzymes involved in the biosynthesiss of docosahexaenoic acid (2007) (1)
- A novel mouse model for mitochondrial long-chain fatty acid β-oxidation deficiency (2013) (1)
- 23 Saccharomycescerevisiae as a Tool for Human Gene Function Discovery (2007) (1)
- Carnitine Palmityl Transferase I Deficiency (CPT I), Three Affected Siblings in One Family (1999) (1)
- Leukocytes as a diagnostic tool for classical galactosaemia (1991) (1)
- 3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method (2022) (1)
- Hydrogen sulfide donor NaHS reduces organ injury in pneumosepsis, associated with improved bio–energetic status (2013) (1)
- Peroxisomal fatty acid beta-oxidation in relation to adrenoleukodystrophy. (1991) (1)
- Signals on proteins, intracellular targeting and inborn errors of organellar metabolism (1994) (1)
- A study on the influence of glycosaminoglycan and growth factor interaction in mucopolysaccharidosis type I bone disease (2015) (1)
- Complementation Analysis of Peroxisomal Diseases: Kinetics of Assembly of Peroxisomes After Fusion of Complementary Cell Lines from Patients Deficient in Peroxisomes (1988) (1)
- Neonatal carnitine concentrations in relation to gestational age and weight (2020) (1)
- Corrigendum to "Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function" [Biochim. Biophys. Acta, Mol. Cell Biol. Lipids 1864/5(2019) 654-661]. (2019) (1)
- A genetic disorder due to the deficiency of the peroxisomal β-oxidation enzyme 3-oxoacyl-CoA thiolase (1987) (1)
- UvA-DARE ( Digital Academic Repository ) Molecular basis of hepatic carnitine palmitoyltransferase (1998) (1)
- In Memoriam / Announcements (1999) (1)
- UvA-DARE ( Digital Academic Repository ) X linked adrenoleukodystrophy : clinical presentation , diagnosis , and therapy (1998) (1)
- Biochemical markers predicting survival in peroxisome biogenesis disorders. (2003) (1)
- Latency of Peroxisomal Enzymes in Digitonin-Permeabilized Cells: The Effect of ATP on Peroxisome Permeability (1992) (1)
- Inherited disorders of mitochondrial fatty acid beta-oxidation [ch. 9] (2002) (1)
- Chapter 9 Inherited Disorders of Mitochondrial Fatty Acid β-Oxidation (2002) (1)
- Impaired cholesterol side chain cleavage activity in liver from patients with the cerebro-hepato-renal (Zellweger) syndrome in relation to the accumulation of Di- and trihydroxycoprostanoic acid in serum (1986) (1)
- Very long chain acyl-CoA dehydrogenase deficiency presenting as isolated exercise-induced myoglobinuria in an adult (1997) (1)
- In vivo and in vitro studies on the interaction of valproic acid and metabolites with the leucine oxidative metabolism (2007) (1)
- Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases (1989) (1)
- [A novel mutation in PEX 26 gene in Zellweger syndrome: a case report]. (2011) (1)
- Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond. (2010) (1)
- Corrigendum to “Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy” [Mol. Genet. Metab. 84 (2005) 144–151] (2008) (1)
- Molecular analysis of disorders of peroxisomal beta-oxidation. (1992) (1)
- Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome (2001) (1)
- Table 2. [Summary of Molecular Genetic Testing Used in Refsum Disease]. (2015) (0)
- UvA-DARE ( Digital Academic Repository ) 3-Methylglutaconic Aciduria Type I Is Caused by Mutations in (2002) (0)
- Identificatio nn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturin g of cells at 40 ° C : implicationss for other inborn errors of metabolism (2007) (0)
- Branched chain amino acids : facts and defects (2007) (0)
- Genetic Disorders of Mitochondrial and Peroxisomal Fatty Acid Oxidation and Peroxisome Proliferator-Activated Receptors (2006) (0)
- UvA-DARE ( Digital Academic Repository ) Primary hyperoxaluria type 1 : clinical , genetic and biochemical studies (2008) (0)
- Endoplasmic reticulum stress signaling in patients with X-linked adrenoleukodystrophy (2013) (0)
- DO04 X-linked adrenoleukodystrophy: cholesterol-depletion increases mono-unsaturated very long chain fatty acids (2007) (0)
- Table 3. [Selected PHYH Allelic Variants]. (2015) (0)
- Functions and dysfunctions of peroxisomes in fatty acid alpha- and beta-oxidation. New insights. (1999) (0)
- SILENT PRIMARY CARNITINE DEFICIENCY DUE TO A DEFICIENT ACTIVITY OF THE ORGANIC CATION/CARNITINE TRANSPORTER OCTN2 (2005) (0)
- Defective oxidation of hydroxyeicosatetraenoic acids in the liver of patients with Zellweger syndrome (1998) (0)
- Interpretation of Very-Long-Chain Fatty Acids Analysis Results (2016) (0)
- Cardioprotective interventions for cancer patients receiving anthracyclines : a Cochrane systematic review (2007) (0)
- BIOSYNTHESIS OF VALPROYLCARNITINE (2009) (0)
- Toshiyuki Fukao. (2020) (0)
- Characterization of a malonyl-CoA insensitive carnitine palmitoyltransferase 1b mouse (CPT1bE3A) (2013) (0)
- Inhibition of N-acetyl-glutamate synthase activity in valproate-associated hyperammonemia (2008) (0)
- Figure 1. [Metabolic pathway showing the different...]. (2015) (0)
- Bezafibrate for X-ALD (2012) (0)
- Cultured human muscle cells from controls and a Zellweger patient: Study on peroxisomes and peroxisomal functions (1987) (0)
- Functional studies on c.1347C>T, a polymorphism modulating phenotypic outcome in X-linked adrenoleukodystrophy (2013) (0)
- Printed in the Netherlands The Inborn Errors of Peroxisomal / l-Oxidation : A Review (0)
- D-bifunctional protein deficiency: case report. (2009) (0)
- Catalase deficient, giant hepatic peroxisomes containing four other enzymes in a child with bone dysplasia (1992) (0)
- UvA-DARE ( Digital Academic Repository ) Branched chain amino acids : facts and defects (2007) (0)
- Aberrant maturation and localisation of peroxisomal thiolase in RCDP fibroblasts (1990) (0)
- The X-ALD Mouse 2.0 (2013) (0)
- Late-onset neuropathy and leukodystrophy revealing a peroxisomal biogenesis defect in two girls (2004) (0)
- Clinical, biochemical and genetic aspects of peroxisomal disorders – an expanding group of genetic diseases in humans (2012) (0)
- Giant, catalase deficient hepatic peroxisomes in a child with bone dysplasia, impaired plasmogcn synthesis and phytanic acid storage (1991) (0)
- Peroxisomes and Peroxisomal Disorders (2005) (0)
- 003 Late onset leukodystrophy in generalized peroxisomal disorders (1999) (0)
- Very long fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome. (1989) (0)
- Deficiency of dihydroxyacetonephosphate acyltransferase and catalase-containing particles in patients with infantile refsum's disease (1986) (0)
- Alkyl-glycerol supplementation rescues pathology in peripheral organs of ether-lipid deficient mice (2009) (0)
- Interference of valproic acid on the branched chain amino acid oxidative metabolism (2008) (0)
- Phenotyping a new mitochondrial fatty acid oxidation deficient mouse model (2013) (0)
- The Peroxisomal β-Oxidation Systems: Characteristics and (Dys) Functions in Man (1989) (0)
- ω-Hydroxylation of phytanic acid in rat liver microsomes Published, JLR Papers in Press, May 1, 2004. DOI 10.1194/jlr.M400064-JLR200 (2004) (0)
- P17.5 Familial Very long chain Acetyl CoA dehydrogenase deficiency (VLCAD) as a cause of neonatal sudden infant death: could survival in VLCAD deficiency be improved by prompt diagnosis? (2011) (0)
- Role of side-chain amidation for the anticholestatic action of nourursodeoxycholic acid in rat liver (2009) (0)
- The human carnitine acylcarnitine translocase (hCACT): Strategies for its heterologous expression, purification and crystallization (2007) (0)
- Quality Assessment of CoaguChek Point-of-Care International Normalized Ratio Monitors: A Note of Caution (2007) (0)
- Proteomics of Renal Peroxisomes (2009) (0)
- [X-linked adrenoleukodystrophy and other peroxisomal diseases caused by a failing peroxisomal beta-oxidation system: clinical expression, diagnosis and treatment]. (1989) (0)
- A NOVEL HUMAN GENETIC DISORDER OF PEROXISOME DIVISION (2012) (0)
- MTO04 Leigh-like encephalomyopathy and mild methylmalonic aciduria: a new MtDNA depletion syndrome (2007) (0)
- Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient. (1993) (0)
- Genistein and MPS I: opposing effects on GAG synthesis and storage in different cell models (2014) (0)
- Table 4. [Selected PEX7 Pathogenic Allelic Variants]. (2015) (0)
- Characterizatio nn and identification of peroxisomal glutathione reductasee in Saccharomyces cerevisiae (2008) (0)
- COMPENSATION OF DEFICIENT FATTY ACID OXIDATION IN LONG CHAIN ACYL-CoA DEHDYROGENASE KNOCKOUT MICE (2010) (0)
- Novel deletion in a patient with an isolated peroxisoml acyl-CoA oxidase deficiency (1994) (0)
- UvA-DARE ( Digital Academic Repository ) Molecular , biochemical end clinical aspects of peroxisomes biogenesis disorders (2007) (0)
- Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene Waterham, (1998) (0)
- Carnitin ee biosynthesis : identification of the cDNA encoding humann 4N-butyrobetaine , 2-oxoglutarate dioxygenase (2007) (0)
- Chemical chaperones improve peroxisomal biogenesis in fibroblasts of mild Zellweger syndrome spectrum patients (2013) (0)
- Peroxisomal Disorders [Chapter 41] (2012) (0)
- Affiliations and author contributions (2012) (0)
- SSIEM 2014 Annual Symposium (2014) (0)
- Lifelong course of Zellweger spectrum disorders: A cohort study (2017) (0)
- RISK STRATIFICATION BY RESIDUAL ENZYME ACTIVITY AFTER POSITIVE NEWBORN SCREENING FOR MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (2012) (0)
- Bile acid abnormalities in peroxisomal disorders (2009) (0)
- Adverse effects of genistein in mucopolysaccharidosis type I cell and mouse models (2015) (0)
- Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse (2020) (0)
- UvA-DARE ( Digital Academic Repository ) Mucopolysaccharidosis type I ( MPS I ) : Assessment of disease severity , therapeutic options and early diagnosis (2013) (0)
- Role of Long-chain Fatty Acyl-Coenzyme A Esters in the Pathogenic Mechanisms of Mitochondrial Fatty Acid Beta-Oxidation (2009) (0)
- Prenatal Diagnosis of Zellweger Syndrome: Case Report (2016) (0)
- Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia (2009) (0)
- PEROXISOMAL DYSFUNCTION IN A HETEROGENEOUS GROUP OF CHONDRODYSPLASIA PUNCTATA (CP) SYNDROMES (1992) (0)
- IMPAIRED DEGRADATION OF LEUKOTRIENES IN PATIENTS WITH PEROXISOMAL DEFICIENCY DISORDERS (1992) (0)
- Peroxisomes in Humans: Metabolic Functions, Cross Talk with Other Organelles, and Pathophysiology of Peroxisomal Disorders (2014) (0)
- Peroxisomal acyi-CoA oxidase immunocytochemistry in human liver. Limitations (1992) (0)
- [Cell biology from a medical viewpoint. XI. Peroxisomes: unmasking of a hidden organelle by studies of the Zellweger syndrome]. (1992) (0)
- NAD depletion and mitochondrial protein hyperacetylation: New insights on liver toxicity and drug-induced effects in vivo (2015) (0)
- Inborn Errors of Metabolism (2017) (0)
- Generalized loss of peroxisomal functions in neonatal adrenoleukodystrophy: Implications for Pre- and postnatal detection and relationship to X-linked adrenoleukodystrophy (1987) (0)
- Ela Foundation Organization Chart Board of Trustees Scientific Committee Steering Committee Table of Contents (0)
- 23 as a Tool for Human Gene Function Discovery (2007) (0)
- A neonatal case of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (2002) (0)
- Oxalate crystals in primary hyperoxaluria type 1 activate the NLRP3 inflammasome (2013) (0)
- The impact of altered carnitine availability on fatty acid and glucose metabolism in diet-induced obese mice (2015) (0)
- X-linked adrenoleucodystrophy: case-history of 2 brothers; biochemistry and therapy (1988) (0)
- 76 IMPAIRED CHOLESTEROL SIDE CHAIN CLEAVAGE IN PATIENTS WITHOUT PEROXISOMES (ZELLWEGER SYNDROME) (1986) (0)
- Screening for dihydropyrimidine dehydrogenase deficiency to prevent severe 5-fluorouracil and capeciatbine-associated toxicity (2013) (0)
- THE X-ALD MOUSE 2.0 : A NEW MODEL FOR X-LINKED ADRENOLEUKODYSTROPHY (2012) (0)
- Chapter 6 Peroxisomal disorders (1996) (0)
- X-linked Adrenoleukodystrophy: Diagnosis an Enzy e Defect ioche ical (1992) (0)
- ChapterChapter 2 IDENTIFICATIO NN OF PEX 7 AS THE SECOND GENE INVOLVE DD IN REFSUM DISEASE (2008) (0)
- Cytoplasmic catalase and ghost-like hepatic peroxisomes in a child with bone dysplasia and mental retardation (1994) (0)
- Bifunctional protein deficiency Resolution of the underlying basis for the intragenic complementation using enzymological and immunological methods (1998) (0)
- Peroxisomes, phytanic acid alpha oxidation and Refsum disease: from enzymology to studies on the toxicity of phytanic acid in patient’ cells, mutant mice and omega-oxidation. (2007) (0)
- CHAPTERR 5 Cardiolipi nn deficiency in X-linked cardioskeletal myopathy and neutropenia ( Barthh syndrome , MIM 302060 ) : a study in cultured skin fibroblasts (2007) (0)
- ELOVL1 is a potential target for therapeutic intervention in X-linked adrenoleukodystrophy (2013) (0)
- Resolution of the subcellular site of very long-chain fatty acid beta-oxidation in human skin fibroblasts using a novel approach. (1992) (0)
- Early phenotype prediction in mucopolysaccharidosis type I based on genotype, residual enzyme activity and clinical characteristics: a prerequisite for introduction of newborn screening (2014) (0)
- Primary hyperoxaluria type 1 : clinical , genetic and biochemical studies (2008) (0)
- Proteomic Characterization of Mammalian Peroxisomes by Tandem MS and Protein Correlation Profiling (2007) (0)
- SHORT REPORT Peroxisomal functions in Mulibrey nanism (1994) (0)
- Forms of Refsum Disease AMACR Deficiency NormalPhytanoyl-CoA Hydroxylase Deficiency PTS 2 Receptor Deficiency (2019) (0)
- CHAPTER 5 GFAP-SCAP mutant mice are impaired in LTP and contextual fear memory (2013) (0)
- Molecularr cloning and expression of human carnitine octanoyltransferasee ( COT ) : evidence for its role in the peroxisomal P-oxidationn of branched-chain fatty acids (2007) (0)
- A simple selection procedure for cells deficient in peroxisomes (1990) (0)
- Lack of isoprenoid products raises ex vivo interleukin-1 β secretion in the HyperImmunoglobulinemia D periodic fever syndrome (2007) (0)
- LONG-CHAIN FATTY ACYL-COENZYME A ESTERS (2009) (0)
- Deficiencies in Ether Glycerolipids and Their Biosynthesis in Inherited Peroxisomal Disorders (1986) (0)
- UvA-DARE ( Digital Academic Repository ) Identification of PEX 7 as the second gene involved in Refsum disease (2003) (0)
- List of Contributors (2021) (0)
- VALPROYL-COA IS A POSSIBLE SUBSTRATE FOR CARNITINE PALMITOYL-TRANSFERASE I (2005) (0)
- Pathogenesis of Mitocondrial Long-Chain Fatty Acids ß-Oxidation Disorders (2009) (0)
- in premature siblings Novel genotype of mevalonic aciduria with fatalities (2006) (0)
- The cystathionine beta-synthase c.844_845ins68 polymorphism protects against CNS demyelination in X-linked adrenoleukodystrohpy (2006) (0)
- Carnitine Acyl Carnitine Translocase Deficiency; An Important Cause of Hyperammonemia (1999) (0)
- Very-long-chain acyl-coenzyme A dehydrogenase deficiency with gastrointestinal hemorrhage as a fatal complication (1996) (0)
- [Zellweger syndrome and other peroxisomal disorders: I. Clinical characteristics of a recently discovered group of diseases]. (1990) (0)
- A happier sequel to Lorenzo's Oil? (1998) (0)
- Acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 12 out of 12 horses with atypical myopathy (2008) (0)
- Table 1. [Comparison of Peroxisomal Metabolites in the Two Forms of Refsum Disease and AMACR Deficiency]. (2015) (0)
- ChapterChapter 4 Peroxisomall fatty acid oxidation disorders and 58 kDa sterol carrier proteinn X ( SCPx ) : activity measurements in liver and fibroblasts using aa newly developed method (2007) (0)
- University of Groningen Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl- CoA dehyrogenase deficiency Touw, (2012) (0)
- Multiple peroxysomal deficiency syndromes: a comparative and multidisciplinary study in Zellweger and Neonatal Adrenoleukodystrophy patients (1986) (0)
- Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: Evidence for a Distinct peroxisomal pristanyl-CoA oxidase (1991) (0)
- Integration Of Multi-Scale Datatypb In Mouse Genetic Reference Populations To Reveal Candidate Modifying Biology In Inborn Errors Of Metabolism (2016) (0)
- Inborn Errors of Peroxisome Biogenesis and Function (2009) (0)
- Mitochondrial Fatty Acid Oxidation and Carnitine Biosynthesis in the Human Fetal-Placental Unit (2007) (0)
- MOLECULAR BASIS OF INHERITED DISORDERS OF ISOPRENOID BIOSYNTHESIS (2000) (0)
- 5 Chapter Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency (2011) (0)
- A novel and rapid long-chain hydroxyacyl-CoA dehydrogenase assay (2013) (0)
- Inborn errors of peroxisomal beta-oxidation: biochemical identification using enzymic and immunological methods. (1990) (0)
- 1 OMEGA-OXIDATION OF VERY LONG-CHAIN FATTY ACIDS IN HUMAN LIVER MICROSOMES : IMPLICATIONS FOR X-LINKED ADRENOLEUKODYSTROPHY (2006) (0)
- Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy. (2015) (0)
- Succinyl-CoA ligase deficiency : report on the first patient resulting from a combined defect in SUGL1 an SUGL2 genes (2013) (0)
- Marx Isolated dihydroxyacetonephosphate-acyltransferase deficiency in rhizomelic chondrodysplasia punctata : clinical presentation , metabolic and histological findings (0)
- Characterization of fatty acylcarnitines in rat hepatocytes in vitro (2005) (0)
- O19 – 1664 Succinyl-CoA ligase deficiency: report on the first patient resulting from a combined defect in SUCLG1 and SUCLG2 genes (2013) (0)
- Mechanisms of valproic acid toxicity: Studies on acyl-CoA interference with the urea cycle (2008) (0)
- UvA-DARE ( Digital Academic Repository ) Lipotoxicity in adrenoleukodystrophy Size matters ! (2017) (0)
- Mitochondrial carnitine acylcarnitine translocase (CACT) deficiency: identification of new cases using a novel assay followed by molecular analysis of the CACT gene (2001) (0)
- [Diagnosis of Zellweger's cerebrohepatorenal syndrome]. (1984) (0)
- Potential interference of valproic acid with the biotin-dependent carboxylase of leucine metabolism (2009) (0)
- PRENATAL DIAGNOSIS OF PEROXISOMAL DISORDERS. † 869 (1996) (0)
- Identificationn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturing of cells at 40 ° C : implicationss for other inborn errors of metabolism (2017) (0)
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