Cornelis Jakobs
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Biology
Cornelis Jakobs's Degrees
- Bachelors Biology University of Amsterdam
- Masters Molecular Biology University of Amsterdam
- PhD Genetics University of California, San Francisco
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(Suggest an Edit or Addition)Cornelis Jakobs's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mutations in antiquitin in individuals with pyridoxine-dependent seizures (2006) (481)
- Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease. (2003) (399)
- Hyperhomocysteinemia is associated with an increased risk of cardiovascular disease, especially in non-insulin-dependent diabetes mellitus: a population-based study. (1998) (386)
- X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. (2001) (351)
- Hyperhomocysteinemia increases risk of death, especially in type 2 diabetes : 5-year follow-up of the Hoorn Study. (2000) (296)
- Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency (1999) (251)
- Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. (2011) (247)
- Progress in understanding 2-hydroxyglutaric acidurias (2012) (220)
- Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) (2010) (219)
- High prevalence of SLC6A8 deficiency in X-linked mental retardation. (2004) (196)
- Increased plasma homocysteine after menopause. (2000) (194)
- Serum homocysteine and risk of coronary heart disease and cerebrovascular disease in elderly men: a 10-year follow-up. (1998) (184)
- IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria (2010) (179)
- X-linked creatine transporter defect: An overview (2003) (172)
- Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect? (2001) (172)
- Long-term outcome in 134 patients with galactosaemia (2005) (161)
- Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. (1981) (161)
- Homocysteine and methionine metabolism in ESRD: A stable isotope study. (1999) (158)
- No net renal extraction of homocysteine in fasting humans. (1998) (158)
- Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase (2001) (158)
- Serum homocysteine level and protein intake are related to risk of microalbuminuria: the Hoorn Study. (1998) (158)
- Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy (2009) (156)
- Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. (2005) (155)
- Biochemical and molecular characterization of 18 patients with pyridoxine‐dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene (2007) (147)
- Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. (1998) (144)
- Inherited disorders of GABA metabolism. (2006) (143)
- Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride. (2004) (138)
- The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. (1997) (135)
- Plasma homocysteine concentration predicts mortality in non-insulin-dependent diabetic patients with and without albuminuria. (1999) (130)
- Succinic semialdehyde dehydrogenase deficiency in children and adults (2003) (129)
- SUDDEN INFANT DEATH AND LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE (1989) (126)
- IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo (2011) (125)
- A Randomized Controlled Study of the Effects of 17Beta‐Estradiol‐Dydrogesterone on Plasma Homocysteine in Postmenopausal Women (1998) (125)
- 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. (1998) (125)
- Exocytotic release of creatine in rat brain (2006) (125)
- Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. (2004) (124)
- Unusual variants of Alexander's disease (2005) (123)
- Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease‐causing mutations in patients with SSADH deficiency (2003) (122)
- Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry. (2000) (120)
- GAMT deficiency (2006) (113)
- No change in impaired endothelial function after long-term folic acid therapy of hyperhomocysteinaemia in haemodialysis patients. (1998) (113)
- Lack of creatine in muscle and brain in an adult with GAMT deficiency (2003) (113)
- Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. (2013) (112)
- Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria) (2003) (110)
- Stable-Isotope Dilution Analysis of D- and L-2-Hydroxyglutaric Acid: Application to the Detection and Prenatal Diagnosis of D- and L-2-Hydroxyglutaric Acidemias (1993) (109)
- A novel gamma-hydroxybutyrate dehydrogenase: identification and expression of an Arabidopsis cDNA and potential role under oxygen deficiency. (2003) (106)
- Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. (2001) (106)
- X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. (2002) (104)
- Congenital creatine transporter deficiency. (2002) (101)
- Respiratory failure and stimulation of glycolysis in Chinese hamster ovary cells exposed to normobaric hyperoxia. (1990) (101)
- Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC (2005) (101)
- Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. (2011) (99)
- 2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism (2000) (98)
- Global DNA methylation measured by liquid chromatography-tandem mass spectrometry: analytical technique, reference values and determinants in healthy subjects (2007) (97)
- The clinical syndrome of creatine transporter deficiency (2003) (97)
- Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders. (1998) (96)
- The Arabidopsis her1 mutant implicates GABA in E-2-hexenal responsiveness. (2007) (95)
- X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8 (2002) (95)
- Alexander disease (2006) (94)
- Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency (2010) (94)
- Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men (2009) (94)
- The metabolism of phytanic acid and pristanic acid in man: A review (1998) (92)
- Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. (2012) (92)
- High frequency of creatine deficiency syndromes in patients with unexplained mental retardation (2006) (92)
- L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. (2009) (91)
- Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. (1990) (91)
- Human metabolism of phytanic acid and pristanic acid. (2001) (90)
- Serum sarcosine is not a marker for prostate cancer (2010) (89)
- Inherited disorders of GABA metabolism (1993) (89)
- Long‐term outcome in pyridoxine‐dependent epilepsy (2012) (88)
- Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine‐dependent epilepsy (2000) (85)
- Glutaric aciduria type I: Pathomechanisms of neurodegeneration (1999) (84)
- An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. (1998) (84)
- Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. (1999) (84)
- Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. (2006) (81)
- Leukoencephalopathy associated with a disturbance in the metabolism of polyols (1999) (81)
- Randomized, double-blind, placebo-controlled study of the effects of raloxifene and conjugated equine estrogen on plasma homocysteine levels in healthy postmenopausal women. (1998) (81)
- Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria). (2002) (80)
- Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by D-2-hydroxyglutaric acid in vitro. (2002) (80)
- Postmenopausal oral 17beta-estradiol continuously combined with dydrogesterone reduces fasting serum homocysteine levels. (1998) (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)
- Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. (2000) (77)
- Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trap (2006) (77)
- Dynamic Changes of Plasma Acylcarnitine Levels Induced by Fasting and Sunflower Oil Challenge Test in Children (1999) (77)
- Hyperhomocysteinemia is associated with the presence of retinopathy in type 2 diabetes mellitus: the Hoorn study. (2000) (76)
- Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. (1983) (74)
- Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. (1998) (73)
- Molecular Cloning of the Mature NAD-dependent Succinic Semialdehyde Dehydrogenase from Rat and Human (1995) (73)
- 5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolism. (2004) (72)
- Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency (2009) (72)
- Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). (1998) (70)
- Treatment of intractable epilepsy in a female with SLC6A8 deficiency. (2010) (69)
- D-2-Hydroxyglutaric aciduria: Further clinical delineation (1999) (69)
- Clinical features and X‐inactivation in females heterozygous for creatine transporter defect (2011) (69)
- l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase (1993) (68)
- 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency (1999) (68)
- D‐2‐Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity? (1999) (68)
- Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. (2003) (68)
- Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. (2005) (68)
- Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. (2011) (66)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ-oxidation (1990) (66)
- Laboratory diagnosis of defects of creatine biosynthesis and transport. (2005) (65)
- Quantitative determination of erythrocyte folate vitamer distribution by liquid chromatography-tandem mass spectrometry (2006) (65)
- Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. (1997) (65)
- Does metformin increase the serum total homocysteine level in non‐insulin‐dependent diabetes mellitus? (1997) (63)
- Involvement of microsomal fatty aldehyde dehydrogenase in the α‐oxidation of phytanic acid (1998) (63)
- Plant d-2-Hydroxyglutarate Dehydrogenase Participates in the Catabolism of Lysine Especially during Senescence* (2011) (63)
- Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. (2005) (63)
- Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation (2005) (62)
- Metabolism of lysine in α‐aminoadipic semialdehyde dehydrogenase‐deficient fibroblasts: Evidence for an alternative pathway of pipecolic acid formation (2010) (62)
- Multiple syndromes of 3-methylglutaconic aciduria. (1993) (62)
- A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry. (2001) (61)
- Disorders of homocysteine metabolism (1998) (60)
- Clinical approach to inherited peroxisomal disorders: A series of 27 patients (1998) (60)
- Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families (2005) (59)
- Homocysteine-Induced Apoptosis in Endothelial Cells Coincides With Nuclear NOX2 and Peri-nuclear NOX4 Activity (2011) (58)
- An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1) (2007) (58)
- X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype (2006) (57)
- Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels (2006) (57)
- D-2-Hydroxyglutaric Aciduria (1995) (56)
- Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase (2002) (56)
- Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? (2000) (55)
- Binding of copper is a mechanism of homocysteine toxicity leading to COX deficiency and apoptosis in primary neurons, PC12 and SHSY-5Y cells (2006) (55)
- A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency (2005) (55)
- Prenatal Diagnosis of Organic Acidemias Based on Amniotic Fluid Levels of Acylcarnitines (1996) (54)
- Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. (2002) (54)
- Serum testosterone levels measured by isotope dilution-liquid chromatography–tandem mass spectrometry in postmenopausal women versus those in women who underwent bilateral oophorectomy (2010) (54)
- Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD) (2013) (54)
- Murine succinate semialdehyde dehydrogenase deficiency (2003) (53)
- Homocysteine affects cardiomyocyte viability: concentration-dependent effects on reversible flip-flop, apoptosis and necrosis (2007) (52)
- 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1992) (52)
- Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts. (1978) (51)
- Nerve cell lesions caused by 3-hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I (1997) (51)
- 4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. (1991) (51)
- Hyperketotic states due to inherited defects of ketolysis. (1987) (51)
- Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. (2005) (50)
- Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency (1995) (50)
- Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography. (1987) (49)
- The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation (2010) (49)
- Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. (2003) (49)
- Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA. (1997) (49)
- Pipecolic acid: A diagnostic marker in pyridoxine‐dependent epilepsy (2005) (48)
- Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism (2013) (48)
- The EEG response to pyridoxine‐IV neither identifies nor excludes pyridoxine‐dependent epilepsy (2010) (48)
- Hyperoxia-induced clonogenic killing of HeLa cells associated with respiratory failure and selective inactivation of Krebs cycle enzymes. (1990) (48)
- Neuropsychiatric Morbidity in Adolescent and Adult Succinic Semialdehyde Dehydrogenase Deficiency Patients (2008) (48)
- Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration. (2011) (47)
- Post- and prenatal diagnostic methods for the homocystinurias (1998) (47)
- Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency (2012) (47)
- Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity (2010) (47)
- Circulating oxidized LDL: determinants and association with brachial flow-mediated dilation Published, JLR Papers in Press, September 18, 2008. (2009) (47)
- Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry. (2001) (47)
- Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism (2011) (46)
- l-2-Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death (1996) (46)
- Red blood cell folate vitamer distribution in healthy subjects is determined by the methylenetetrahydrofolate reductase C677T polymorphism and by the total folate status. (2007) (46)
- Homocysteine clearance and methylation flux rates in health and end-stage renal disease: association with S-adenosylhomocysteine. (2004) (46)
- Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography. (1990) (45)
- S‐adenosylhomocysteine and the ratio of S‐adenosylmethionine to S‐adenosylhomocysteine are not related to folate, cobalamin and vitamin B6 concentrations (2003) (44)
- Determination of plasma bile acids by capillary gas-liquid chromatography-electron capture negative chemical ionization mass fragmentography. (1989) (43)
- Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites. (2001) (42)
- Relative Kinetics of Phenylalanine and Leucine in Low Birth Weight Infants during Nutrient Administration (1996) (42)
- Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. (2004) (42)
- Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1−/− mice and characterization of γ-hydroxybutyric acid pharmacology (2007) (42)
- Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase. (2002) (41)
- In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism (2001) (41)
- 2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome. (1994) (41)
- Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. (2004) (40)
- Severe Epilepsy in X‐Linked Creatine Transporter Defect (CRTR‐D) (2007) (40)
- N-acetylaspartylglutamate in Canavan disease: an adverse effector? (1999) (40)
- Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. (2007) (39)
- Molecular basis of phenotypic variation in patients with argininemia (1995) (39)
- Plasma homocysteine and S-adenosylmethionine in erythrocytes as determinants of carotid intima-media thickness: different effects in diabetic and non-diabetic individuals. The Hoorn Study. (2003) (39)
- Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS. (2000) (39)
- Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I. (1988) (39)
- Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. (2008) (39)
- 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)
- Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome (2001) (39)
- Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency. (1990) (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)
- Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver. (1992) (38)
- Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro (1997) (38)
- Spontaneous and precipitated withdrawal after chronic intragastric administration of gamma-hydroxybutyrate (GHB) in baboons (2005) (38)
- Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures (2009) (38)
- Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT). (2002) (37)
- Antenatal treatment in two Dutch families with pyridoxine-dependent seizures (2010) (37)
- Investigations by mass isotopomer analysis of the formation of D‐2‐hydroxyglutarate by cultured lymphoblasts from two patients with D‐2‐hydroxyglutaric aciduria (2004) (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)
- Effect of folic acid on methionine and homocysteine metabolism in end-stage renal disease. (2005) (37)
- Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry. (2006) (37)
- Investigation of the metabolic pattern in maple syrup urine disease by means of glass capillary gas chromatography and mass spectrometry (1977) (36)
- Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate-deficient glycoprotein syndrome (1996) (36)
- S-Adenosylmethionine and 5-Methyltetrahydrofolate Are Associated With Endothelial Function After Controlling for Confounding by Homocysteine: The Hoorn Study (2005) (36)
- α-Aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by α-aminoadipic semialdehyde dehydrogenase deficiency (2007) (36)
- Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria. (1998) (36)
- Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. (1992) (36)
- Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future (1990) (35)
- Transaldolase deficiency in a two-year-old boy with cirrhosis. (2008) (35)
- Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome. (1995) (35)
- l-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model (2007) (35)
- Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype (2013) (34)
- Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood (2015) (34)
- Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency. (2006) (34)
- D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. (1994) (34)
- Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development (2008) (33)
- Stable Isotope Dilution Analysis of Galactitol in Amniotic Fluid: an Accurate Approach to the Prenatal Diagnosis of Galactosemia (1984) (33)
- Pearson syndrome: Altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities (1993) (33)
- Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography (1993) (33)
- Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. (2007) (33)
- VIGABATRIN THERAPY IN PATIENT WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (1989) (33)
- Behavioral effects and pharmacokinetics of gamma-hydroxybutyrate (GHB) precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4-BD) in baboons (2009) (33)
- Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. (2003) (32)
- Atypical MRI findings in Canavan disease: a patient with a mild course. (2005) (32)
- 5-Oxoproline as a cause of high anion gap metabolic acidosis: an uncommon cause with common risk factors. (2008) (32)
- l‐2‐Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters (2006) (32)
- Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency (2009) (31)
- Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation. (1998) (31)
- Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy ( ALDH 7 A 1 deficiency ) (2010) (31)
- Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis (1992) (31)
- Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD). (2009) (30)
- Determinants of fasting and post-methionine homocysteine levels in families predisposed to hyperhomocysteinemia and premature vascular disease. (1999) (30)
- Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. (2001) (30)
- Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. (2014) (30)
- Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. (2012) (30)
- Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine are associated with retinal microvascular abnormalities: the Hoorn Study. (2008) (29)
- Mutations in phenotypically mild D‐2‐hydroxyglutaric aciduria (2005) (29)
- Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid (2007) (29)
- Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? (2011) (28)
- In vivo research with stable isotopes in biochemistry, nutrition and clinical medicine: an overview. (1999) (28)
- Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy (2012) (28)
- Molecular prenatal diagnosis of 3‐hydroxy−3‐methylglutaryl coa lyase deficiency (1995) (28)
- A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry. (2006) (28)
- Folic acid treatment increases homocysteine remethylation and methionine transmethylation in healthy subjects. (2005) (28)
- Kinetics of homocysteine metabolism after moderate alcohol consumption. (2005) (28)
- Are cerebral creatine deficiency syndromes on the radar screen (2006) (27)
- The occurrence of 2-hydroxyisovaleric acid in patients with lactic acidosis and ketoacidosis. (1977) (27)
- Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia (1988) (27)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1991) (27)
- Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype (2005) (27)
- Oral estradiol decreases plasma homocysteine, vitamin B6, and albumin in postmenopausal women but does not change the whole-body homocysteine remethylation and transmethylation flux. (2005) (27)
- Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis (1993) (27)
- Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language (2009) (26)
- Phytanoyl-CoA hydroxylase activity is induced by phytanic acid. (2000) (26)
- Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes. (1999) (26)
- l-2-Hydroxyglutaric aciduria presenting with severe autistic features (2008) (26)
- Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases (2008) (26)
- d-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: A new neurometabolic disorder? (1993) (25)
- Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver. (1997) (25)
- Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications (1994) (25)
- Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. (2009) (25)
- Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism. (2004) (25)
- PROPIONACIDÆMIA AND IMMUNODEFICIENCY (1980) (25)
- [6S]5-methyltetrahydrofolate or folic acid supplementation and absorption and initial elimination of folate in young and middle-aged adults (2005) (24)
- X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. (2005) (24)
- Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. (2004) (24)
- Neuropathology in succinic semialdehyde dehydrogenase deficiency. (2010) (24)
- The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family. (2004) (23)
- Abnormalities of vascular function in hyperhomocysteinaemia: relationship to atherothrombotic disease (1998) (23)
- L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. (1997) (23)
- Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency (2006) (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)
- The first adult case with 4-hydroxybutyric aciduria (1990) (23)
- L-2-Hydroxyglutaric aciduria and lactic acidosis (1998) (23)
- Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. (2005) (22)
- High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment? (2006) (22)
- Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids. (2017) (22)
- Organic acids in cerebrospinal fluid and plasma of patients withl-2-hydroxyglutaric aciduria (1995) (22)
- Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database (2011) (22)
- Chronic intragastric administration of gamma-butyrolactone produces physical dependence in baboons (2006) (22)
- Novel mutations in pyridoxine-dependent epilepsy. (2011) (22)
- Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure (2011) (22)
- First prenatal diagnosis of acyl-CoA oxidase deficiency (1990) (22)
- Stable isotope dilution analysis ofN-acetylaspartic acid in CSF, blood, urine and amniotic fluid: Accurate postnatal diagnosis and the potential for prenatal diagnosis of canavan disease (1991) (22)
- Hyperhomocysteinaemia is not related to risk of distal somatic polyneuropathy: The Hoorn Study (1999) (22)
- Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome. (1990) (22)
- Normohomocysteinaemia and vitamin-treated hyperhomocysteinaemia are associated with similar risks of cardiovascular events in patients with premature atherothrombotic cerebrovascular disease. A prospective cohort study. (2000) (21)
- D-2-Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings (2002) (21)
- Valproate induces in vitro accumulation of long-chain fatty acylcarnitines. (2001) (21)
- Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: Contribution to the prenatal diagnosis of inherited disorders of leucine catabolism (1984) (21)
- Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. (2007) (20)
- D-2-hydroxyglutarate metabolism is linked to photorespiration in the shm1-1 mutant. (2013) (20)
- Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria. (2003) (20)
- Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers (2013) (20)
- The effect of renal transplantation on hyperhomocysteinaemia in dialysis patients, and the estimation of renal homocysteine extraction in patients with normal renal function. (1998) (20)
- Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid. (1998) (20)
- Quantification of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent 1,N(6)-etheno derivatives: an adaptation of previously described methodology. (2002) (19)
- Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria. (2004) (19)
- In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: Limited diagnostic use of 1-13C fatty acid breath test using bolus technique (1997) (19)
- Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall (2000) (19)
- Hormone replacement influences homocysteine levels in the methionine-loading test: a randomized placebo controlled trial in postmenopausal women. (2004) (19)
- Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methods (2010) (19)
- The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency (1998) (19)
- Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? (1988) (18)
- Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing (2013) (18)
- Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays (1994) (18)
- Prenatal diagnosis of Canavan disease (1992) (18)
- X-linked creatine transporter deficiency (2005) (18)
- Magnetic resonance imaging in lactic acidosis (1996) (18)
- Identification of pristanoyl-CoA oxidase as a distinct, clofibrate non-inducible enzyme in rat liver peroxisomes. (1992) (18)
- Spontaneous pregnancy in a patient with classical galactosaemia (1999) (18)
- Development of a Stable-Isotope Dilution Assay for γ-Aminobutyric Acid (GABA) Transaminase in Isolated Leukocytes and Evidence That GABA and β-Alanine Transaminases Are Identical (2001) (18)
- Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. (2009) (17)
- Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid (2004) (17)
- Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation (2005) (17)
- Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. (1998) (17)
- Hyperhomocysteinaemia is not associated with isolated crural arterial occlusive disease: The Hoorn Study (2000) (17)
- Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata (1997) (17)
- Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography - mass spectrometry (1995) (16)
- Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia. (1990) (16)
- Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid. (1984) (16)
- Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. (2008) (16)
- Renal failure in adult patients with hereditary tyrosinaemia type I (1991) (16)
- Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (1998) (16)
- Hemiconvulsion-Hemiplegia-Epilepsy Syndrome as a Presenting Feature of L-2-Hydroxyglutaric Aciduria (2006) (16)
- Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS). (2005) (16)
- Synthesis of deuterium labelled analogues of pristanic acid and phytanic acid for use as internal standards in stable isotope dilution analysis (1988) (16)
- Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution (2000) (16)
- Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion (2005) (16)
- In Vivo Study of Phytanic Acid α-Oxidation in Classic Refsum's Disease and Chondrodysplasia Punctata (1992) (16)
- Hyperorgininemia: a treatable inborn error of metabolism (1997) (15)
- l-2-Hydroxyglutaric aciduria: Two further cases (1993) (15)
- Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. (1984) (15)
- X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype (2006) (15)
- D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? (2006) (15)
- Characterization of oxygen-resistant Chinese hamster ovary cells. III. Relative resistance of succinate and alpha-ketoglutarate dehydrogenases to hyperoxic inactivation. (1991) (15)
- Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria (2009) (15)
- 3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. (1980) (14)
- Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase. (2004) (14)
- Fat elimination in parenterally fed low birth weight infants during the first two weeks of life. (1983) (14)
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis (1982) (14)
- L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients (1997) (14)
- Organic aciduria in Pearson syndrome (1991) (14)
- Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria (1992) (14)
- Fatal neonatal malonic aciduria (1998) (14)
- A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. (2011) (14)
- Prenatal diagnosis of Canavan disease — Problems and dilemmas (1999) (13)
- D‐2‐hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses (2003) (13)
- Determination of extracellular and intracellular enrichments of [1-(13)C]-alpha-ketoisovalerate using enzymatically converted [1-(13)C]-valine standardization curves and gas chromatography-mass spectrometry. (1999) (13)
- Pyridoxine-Dependent Seizures Caused by Alpha Amino Adipic Semialdehyde Dehydrogenase Deficiency: The First Polish Case with Confirmed Biochemical and Molecular Pathology (2008) (13)
- Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening. (1993) (13)
- Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: A new genetic disease? (1996) (13)
- Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. (2005) (13)
- Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. (2011) (13)
- Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening (1993) (13)
- ASSOCIATION BETWEEN VITAMIN B6 AND WHITE MATTER HYPERINTENSITIES IN PATIENTS WITH ALZHEIMER'S DISEASE NOT MEDIATED BY HOMOCYSTEINE METABOLISM (2007) (12)
- Clinical presentations of patients with polyol abnormalities. (2004) (12)
- Plasma myeloperoxidase is inversely associated with endothelium-dependent vasodilation in elderly subjects with abnormal glucose metabolism. (2010) (12)
- Facial anomalies in D-2-hydroxyglutaric aciduria. (1999) (12)
- Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency. (2012) (12)
- Identification of Methyl-branched Chain Dicarboxylic Acids in Amniotic Fluid and Urine in Propionic and Methylmalonic Acidemia (1984) (11)
- Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis (1998) (11)
- Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia (1997) (11)
- First‐trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination (1990) (11)
- Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney (1993) (11)
- Combined method for the determination of γ-aminobutyric and β-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry (1999) (11)
- Refractory seizures associated with an organic aciduria in a dog. (2007) (11)
- Sedation with 4-hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency (2004) (11)
- Determination of isotopic enrichments of [1-13C]homocysteine, [1-13C]methionine and [2H3-methyl-1-13C]methionine in human plasma by gas chromatography-negative chemical ionization mass spectrometry. (2000) (11)
- A CASE OF TYROSINAEMIA TYPE I WITH NORMAL LEVEL OF SUCCINYLACETONE IN THE AMNIOTIC FLUID (1996) (10)
- A new case of hyperargininaemia: Neurological and biochemical findings prior to and during dietary treatment (1990) (10)
- Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters (1995) (10)
- Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (1999) (10)
- Stable isotope studies of phytanic acid α-oxidation: in vivo production of formic acid (1997) (10)
- Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis (1994) (10)
- D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders? (2004) (10)
- [Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. (2010) (10)
- Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4‐hydroxybutyric aciduria) (1993) (10)
- Prenatal diagnosis for Canavan disease: the use of DNA markers (1995) (10)
- 3-, 6- and 7-hydroxyoctanoic acids are metabolites of medium-chain triglycerides and excreted in urine as glucuronides. (1996) (9)
- Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria (2011) (9)
- A Novel γ-Hydroxybutyrate Dehydrogenase (2003) (9)
- The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency (1991) (9)
- Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency. (2013) (9)
- Leucine and glucose kinetics during growth hormone treatment in intrauterine growth-retarded preterm infants. (1996) (9)
- Development of a stable-isotope dilution assay for gamma-aminobutyric acid (GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identical. (2001) (9)
- Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts. (1997) (9)
- Peroxisomal disorders: Concentrations of metabolites in cerebrospinal fluid compared with plasma (1993) (8)
- Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1. (2012) (8)
- Minimal sampling protocol for accurate estimation of urea production: a study with oral [13C]urea in fed and fasted piglets. (2005) (8)
- Mannosidosis (1985) (8)
- Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia (1990) (8)
- A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts (1994) (8)
- Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) (1998) (8)
- Prenatal diagnosis of propionic acidemia: Amniocentesis at the 11th week of pregnancy (1989) (8)
- Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography (1999) (8)
- D-2-Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity (1998) (7)
- Prenatal Diagnosis of Inherited Metabolic Disorders by Stable Isotope Dilution GC-MS Analysis of Metabolites in Amniotic Fluid: Review of Four Years Experience (1989) (7)
- Propionacidaemia and immunodeficiency. (1980) (7)
- Disorders of Neurotransmitters (1990) (7)
- Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome (2000) (7)
- Stable isotope studies of phytanic acid alpha-oxidation: in vivo production of formic acid. (1997) (7)
- Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity (2011) (7)
- Prenatal diagnosis of galactosemia (2005) (7)
- Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry (1985) (7)
- Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency (1991) (7)
- Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid (1988) (7)
- 4-Hydroxybutyric aciduria: A new inborn error of metabolism. I. Clinical review (1984) (6)
- Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age—part 1 (2005) (6)
- Major hyperpipecolataemia in a normal adult (1996) (6)
- Identification of pristanoyl-CoA oxidase and phytanic acid decarboxylation in peroxisomes and mitochondria from human liver: Implications for Zellweger syndrome (1991) (6)
- METABOLITE PATTERNS AND CLINICAL EXPRESSIONS OF URIDINE DIPHOSPHOGALACTOSE EPIMERASE DEFICIENCY (1985) (6)
- 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)
- Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats (2005) (5)
- Heterogeneity in di/Trihydroxycholestanoic Acidaemia (1994) (5)
- A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids (1997) (5)
- ELEVATED PLASMA SORBITOL LEVELS IN CATARACT PATIENTS WITH SORBITOL DEHYDROGENASE DEFICIENCY (1985) (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)
- Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency (2000) (5)
- Guanidino compounds in hyperargininaemia (1992) (5)
- Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. (1993) (5)
- Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts. (1997) (5)
- Chemical analysis of succinylacetone and 4‐hydroxyphenyllactate in amniotic fluid using selective ion monitoring (1984) (5)
- Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA (1998) (5)
- A fatal case of 2-keto-, 2-hydroxy- and 2-aminoadipic aciduria: Relation of organic aciduria to phenotype? (1992) (5)
- Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material (1986) (5)
- Treatment and molecular analysis of neonatal carnitine palmitoyltransferase II deficiency. (1999) (4)
- Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acid. (1990) (4)
- Mutations in the D-2-hydroxyglutarate Dehydrogenase Gene in Three Patients With Phenotypically Mild D-2-hydroxyglutaric Aciduria (2005) (4)
- Various Organic Acidurias (2003) (4)
- Liver transplantation in two children with tyrosinaemia type I: Biochemical aspects (1991) (4)
- Bile acids in amniotic fluid: Promising metabolites for the prenatal diagnosis of peroxisomal disorders (1991) (4)
- L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. (2003) (4)
- Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: A unique case of γ‐hydroxybutyric aciduria and Williams syndrome (2007) (4)
- Familial encephalopathy andl-2-hydroxyglutaric aciduria (1993) (4)
- What have we here? A man or a fish? (2010) (4)
- Amniotic fluid propionylcarnitine in methylmalonic aciduria (1987) (4)
- 4-Hydroxybutyric aciduria: A new inborn error of metabolism. III. Enzymology and inheritance (1984) (3)
- Zellweger syndrome in a preterm, small for gestational age infant (1992) (3)
- Ribose- 5-Phosphate Isomerase Deficiency and Transaldolase Deficiency (2008) (3)
- ガスクロマトグラフィー‐負化学イオン化質量分析によるヒト血しょう中の[1‐13C]ホモシステイン,[1‐13C]メチオニン及び[2H3‐メチル‐1‐13C]メチオニンの同位体濃縮物の定量 (2000) (3)
- Organic acid profiles resembling aβ-oxidation defect in two patients with coeliac disease (1996) (3)
- Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry. (1999) (3)
- Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures. (2008) (3)
- [L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly]. (2006) (3)
- Roth spots in pyridoxine dependent epilepsy (2011) (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)
- The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family (1994) (2)
- 1136 URINARY EXCRETION OF GAMMA-HYDROXYBUTYRIC ACID IN A PATIENT WITH NEUROLOGICAL ABNORMALITIES; A NEW INBORN ERROR OF AMINO ACID METABOLISM? (1981) (2)
- 4-Hydroxybutyric aciduria: A new inborn error of metabolism. II. Biochemical findings (1984) (2)
- Synthesis of deuterium labelled analogues of very long chain fatty acids C22:0, C24:0 and C26:0 for use as internal standards in stable isotope dilution analysis (1988) (2)
- Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib (1999) (2)
- PYRIDOXINE-DEPENDENT EPILEPSY - AN EXPANDING CLINCAL SPECTRUM (2009) (2)
- Hepatocyte Transplantation (HTx) Extends Lifespan, Increases Branched Chain a-Keto Acid Dehydrogenase (BCKDH) Activity,and Improves Neurotransmitter and Blood Amino Acid Profiles in a Murine Model of Intermediate Maple Syrup Urine Disease (iMSUD) (2009) (2)
- Increased risk for cardiovascular disease by high serum total homocysteine is related to glucose tolerance: the Hoorn Study (1997) (2)
- 2-Methylbutyryl-CoA dehydrogenase (2-MBCDase) deficiency: a new inborn error of L-isoleucine metabolism (2000) (2)
- Very long chain fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome (1989) (2)
- [Pre- and postnatal diagnosis of organoacidopathies]. (1990) (2)
- [Pearson's syndrome: a multi-system disorder based on a mt-DNA deletion]. (1991) (2)
- “STIFF-BABY-LIKE” SYNDROME WITH SEVERELY DIMINISHED GABA IN CSF - A DEFECT OF GLUTAMIC ACID DECARBOXYLASE? (1994) (2)
- AMNIOTIC FLUID ODD‐CHAIN FATTY ACIDS ARE INCREASED IN PROPIONIC ACIDAEMIA (1996) (2)
- Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver (1997) (1)
- Sudden infant death syndrome: Organic acid profiles in cerebrospinal fluid from 47 children and the occurrence ofN-acetylaspartic acid (1990) (1)
- L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation (2010) (1)
- Cerebral Organic Acidurias (2014) (1)
- Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria? (2007) (1)
- Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency in a girl with eventful perinatal medical history (2008) (1)
- Status epilepticus in a newborn – pyridoxine toxicity? (2011) (1)
- Leukocytes as a diagnostic tool for classical galactosaemia (1991) (1)
- Activation and oxidation of pristanic acid in rat liver: identification of a distinct, clofibrate non-inducible pristanoyl-CoA oxidase. (1992) (1)
- Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1996) (1)
- Effect of extracellular homocysteine on H19 expression in HUVEC (2007) (1)
- Bile Acid Precursors Compete with very Long Chain Fatty Acids for Translocation into Peroxisomes (2013) (1)
- High prevalence of SLC6A8 deficiency, a novel X-linked mental retardation syndrome (2005) (1)
- Creatine and its Metabolites (2008) (1)
- L-2-hydroxyglutaric aciduria: novel mutations in the L-2-hydroxyglutarate dehydrogenase gene (2005) (1)
- Homocysteine-Induced Apoptosis in Endothelial Cells Coincides With Nuclear NOX2 and Peri-nuclear NOX4 Activity (2011) (1)
- Lipoxygenase metabolites in amniotic fluid of patients with Zellweger syndrome (1998) (0)
- P0786 UREA PRODUCTION MEASURED WITH [13C]UREA IN FED AND FASTED PIGLETS: ACCURACY AND SIMPLIFICATION OF PROTOCOL. (2004) (0)
- semialdehyde levels diagnosis by elevated urinary alpha-aminoadipic Pyridoxine-dependent seizures in Dutch patients: (2008) (0)
- ESTIMATES OF PROTEIN OXIDATION IN LOW BIRTH WEIGHT INFANTS DURING PARENTERAL NUTRITION: COMPARISON OF UREA SYNTHESIS, NITROGEN EXCRETION AND ESSENTIAL AMINO ACID OXIDATION. † 1912 (1996) (0)
- P4-316 The methionine-homocysteine cycle in the brain of Alzheimer patients (2004) (0)
- In vitro effect of S-adenosyl homocysteine on H19 gene expression (2008) (0)
- Case report L-2-Hydroxyglutaric aciduria presenting with severe autistic features q (2008) (0)
- Mutations identified in D-2-hydroxyglutarate dehydrogenase in 14 out of 36 unrelated patients with D-2-hydroxyglutaric aciduria (2006) (0)
- Lysine restricted diet for pyridoxine-dependent epilepsy: First reports and future trial (2013) (0)
- D-Glyceric aciduria: new development (1992) (0)
- GABA, Homocarnosine, and beta-Alanine (2008) (0)
- MLP018 Intrauterine treatment in pyridoxine-dependent seizures (2007) (0)
- Abstract: 525 PLASMA MYELOPEROXIDASE CONCENTRATION IS INVERSELY ASSOCIATED WITH BRACHIAL FLOW-MEDIATED VASODILATION IN SUBJECTS WITH ABNORMAL GLUCOSE METABOLISM (2009) (0)
- EEG AMPLITUDE RESPONSE UPON PYRIDOXINE-IV IN INFANTS WITH PYRIDOXINE DEPENDENT EPILEPSY AND ALDH7A1GENE MUTATION (2008) (0)
- Very long fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome. (1989) (0)
- X-linked creatine transporter deficiency: molecular and biochemical aspects (2005) (0)
- Deuteraction of DL‐4‐hydroxyphenyllactic acid (1989) (0)
- P290 Instantaneous EEG-response upon pyridoxine-iv in infants with pyridoxine dependent epilepsy by ALDH7A1 gene-mutation (2009) (0)
- Metabolic profiling in succinate semialdehyde dehydrogenase (SSADH) deficient mice provides insight into neuro(patho)mechanims. (2001) (0)
- 65 CLINICAL, BIOCHEMICAL AND GENETIC FEATURES IN TRANSALDOLASE DEFICIENCY, A NEW DISORDER IN PEDIATRIC HEPATOLOGY (2010) (0)
- P17.3 L-2-hydroxyglutaric aciduria (L2-HGA): Infantile versus adult late-onset manifestation (2011) (0)
- The phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) due to antiquitin deficiency (2007) (0)
- Serum total homocysteine level is positively related to the prevalence of ischemic heart disease: the Hoorn Study (1996) (0)
- The Segawa syndrome (1985) (0)
- Biochemical and molecular analysis of the ALDH7 A1 gene in 31 patients with Pyridoxine-dependent epilepsy (2008) (0)
- Activity in the Juvenile Rat Hippocampus Receptor Activation Promotes Seizure (2015) (0)
- Intracellular folate distribution in health and disease (2002) (0)
- Plasma homocysteine and S-adenosylmethionine in erythrocytes as determinants of carotid intima-media thickness : different effects in diabetic and non-diabetic indi v iduals The Hoorn Study (2003) (0)
- D-2-Hydroxyglutaric aciduria (D 2-HGA): A possible diagnosis in neonatal encephalopathy (1995) (0)
- A92 ASSESSMENT OF GABAB ANTAGONIST PRECIPITATED WITHDRAWAL DURING CHRONIC ADMINISTRATION OF GAMMA-BUTYROLACTONE (GBL) (2005) (0)
- 231 EFFECTS OF EARLY POSTNATAL RECOMBINANT HUMAN GROWTH HORMONE (rhGH) TREATMENT ON PROTEIN METABOLISM IN INTRA UTERINE GROWTH RETARDED (IUGR) PRETERM INFANTS: a pilot study (1994) (0)
- In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: Limited diagnostic use of 1- 13 C fatty acid breath test (1997) (0)
- NOVEL VARIATIONS AND PATHOGENIC MUTATIONS IN THE SLC6A8 GENE: VALIDATION OF PREDICTION TOOLS (2009) (0)
- Global DNA methylation - Comparison of two different methods (2008) (0)
- GABA, Homocarnosine, and β-Alanine (2008) (0)
- Corrigendum to “Plasma homocysteine and S-adenosylmethionine in erythrocytes as determinants of carotid intima-media thickness: different effects in diabetic and non-diabetic individuals The Hoorn Study” [Atherosclerosis 169 (2003) 323-330] (2004) (0)
- Inborn errors of metabolism (IEM) and associated metabolic disturbances detected in a cohort of greek patients with autism spectrum disorder (ASD). (2012) (0)
- Diabetes mellitus en atherosclerose (2003) (0)
- Dutch cohort with alpha-aminoadipic semialdehyde dehydrogenase deficiency (pyridoxine dependent epilepsy): A founder effect and an intriguing 'silent' mutation in antiquitin (ALDH7A1) (2007) (0)
- 13 MEASUREMENT OF PROTEIN TURNOVER USING D1-PHENYLALANINE, D2-TYROSINE AND 1-13C-LEUCINE IN VERY LOW BIRTHWEIGHT (VLBWI PRETERM INFANTS FED FORTIFIED HUMAN MILK OR SPECIAL FORMULA (1995) (0)
- MLO02 Dysmorphology in patients with pyridoxine-dependent seizures and mutations of the antiquitin (Aldh7a1) gene (2007) (0)
- measured by ID-LC-MS/MS in postmenopausal women versus those in women who underwent bilateral oophorectomy (2010) (0)
- ETP03 EEG-amplitude response by pyridoxine-IV in children with pyridoxine dependent epilepsy and ALDH7A1-gene mutation. (2007) (0)
- 033 Polyols and a novel leukoencephalopathy (1999) (0)
- Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: Evidence for a Distinct peroxisomal pristanyl-CoA oxidase (1991) (0)
- N-acetyl-aspartate (NAA) as a peripheral marker for cerebral damage (1996) (0)
- N-acetylaspartylglutamate in CNS hypomyelination. (2011) (0)
- Late-onset neuropathy and leukodystrophy revealing a peroxisomal biogenesis defect in two girls (2004) (0)
- Homocysteine binds copper and induces COX deficiency and apoptosis in different neuron-like cell culture models preventable by copper supplementation (2005) (0)
- Concluding remarks (1998) (0)
- Inherited metabolic defects in pentose and polyol metabolism (2005) (0)
- Is the MPS I Medical Phenotype Associated with Specific Causative Factors? (2012) (0)
- Hyperhomocysteinaemia attributes to ten percent of all cardiovascular disease in a 50-75 year old Caucasian population (1997) (0)
- Diabetes mellitus and atherosclerosis (2003) (0)
- Early diagnosis of inherited metabolic diseases: towards improving outcome (2003) (0)
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What Schools Are Affiliated With Cornelis Jakobs?
Cornelis Jakobs is affiliated with the following schools:
