Ronaldd J. A. Wanders

Ronaldd J. A. Wanders's AcademicInfluence.com Rankings

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#4887

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#7229

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Biochemistry

#533

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#621

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Biology

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Ronaldd J. A. Wanders's Published Works

Number of citations in a given year to any of this author's works

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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