Published in J Inherit Metab Dis on January 01, 2005
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol (2000) 2.01
Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography. Clin Chim Acta (1987) 1.39
Highly sensitive and simple liquid chromatographic determination in plasma of B6 vitamers, especially pyridoxal 5'-phosphate. J Chromatogr A (1996) 1.18
Lysine metabolism in the human and the monkey: demonstration of pipecolic acid formation in the brain and other organs. Neurochem Res (1982) 0.94
Regional changes in the concentrations of glutamate, glycine, taurine, and GABA in the vitamin B-6 deficient developing rat brain: association with neonatal seizures. Neurochem Res (1989) 0.92
Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. Neurology (2000) 0.88
Comparative rates of metabolism of pipecolic acid in several animal species. Comp Biochem Physiol B (1982) 0.87
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. J Inherit Metab Dis (2008) 2.46
Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis. N Engl J Med (1996) 2.38
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology (2006) 2.19
Underlying disorders associated with severe early-onset preeclampsia. Am J Obstet Gynecol (1995) 2.04
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol (2000) 2.01
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet (2001) 1.95
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
Serum homocysteine level and protein intake are related to risk of microalbuminuria: the Hoorn Study. Kidney Int (1998) 1.56
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis (1990) 1.55
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation. J Med Genet (2004) 1.53
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet (1997) 1.50
Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol (1998) 1.49
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet (1999) 1.48
Hyperhomocysteinemia increases risk of death, especially in type 2 diabetes : 5-year follow-up of the Hoorn Study. Circulation (2000) 1.46
Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet (1999) 1.42
Hyperhomocysteinemia is associated with an increased risk of cardiovascular disease, especially in non-insulin-dependent diabetes mellitus: a population-based study. Arterioscler Thromb Vasc Biol (1998) 1.42
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis (2006) 1.42
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom (1990) 1.41
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol (1999) 1.41
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis (2007) 1.41
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis (1993) 1.40
Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography. Clin Chim Acta (1987) 1.39
Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr (1993) 1.39
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics (1998) 1.37
Three different methods for the determination of total homocysteine in plasma. Ann Clin Biochem (1995) 1.30
4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta (1991) 1.29
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet (2001) 1.28
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics (2005) 1.27
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. J Inherit Metab Dis (2007) 1.27
5-Oxoproline as a cause of high anion gap metabolic acidosis: an uncommon cause with common risk factors. Neth J Med (2008) 1.25
Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis. Neurology (2009) 1.25
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res (2000) 1.25
Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. J Biol Chem (1995) 1.24
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet (2001) 1.24
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet (2001) 1.23
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology (2009) 1.23
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol (2001) 1.22
Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry. Clin Chem (2000) 1.22
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A (2005) 1.21
Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta (1981) 1.19
Differential distribution of apolipoprotein E isoforms in human plasma lipoproteins. Arteriosclerosis (1989) 1.16
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet (1989) 1.15
Glutaric aciduria type I: pathomechanisms of neurodegeneration. J Inherit Metab Dis (1999) 1.14
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. Mol Genet Metab (2001) 1.14
Increased plasma homocysteine after menopause. Atherosclerosis (2000) 1.14
X-linked creatine transporter defect: an overview. J Inherit Metab Dis (2003) 1.12
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol (2000) 1.11
Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol (1993) 1.10
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Neurochem Int (2007) 1.08
5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolism. Anal Biochem (2004) 1.08
Apple juice, fructose, and chronic nonspecific diarrhoea. Eur J Pediatr (1989) 1.08
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis (2009) 1.08
Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.08
Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. J Lipid Res (1998) 1.07
Analysis of pipecolic acid in biological fluids using capillary gas chromatography with electron-capture detection and [2H11]pipecolic acid as internal standard. J Chromatogr (1992) 1.06
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr (1984) 1.06
Serum homocysteine and risk of coronary heart disease and cerebrovascular disease in elderly men: a 10-year follow-up. Arterioscler Thromb Vasc Biol (1998) 1.06
Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol (1999) 1.06
Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children. Pediatr Res (1999) 1.05
Abolition of zolpidem sensitivity in mice with a point mutation in the GABAA receptor gamma2 subunit. Neuropharmacology (2004) 1.05
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life (2005) 1.05
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr (1992) 1.04
Human metabolism of phytanic acid and pristanic acid. Prog Lipid Res (2001) 1.04
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines. Pediatr Res (1996) 1.04
Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency. J Inherit Metab Dis (2005) 1.04
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case. Neuropediatrics (2005) 1.04
Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency. Neurobiol Dis (2004) 1.04
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet (1998) 1.03
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum Mol Genet (2000) 1.03
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. J Lipid Res (1992) 1.02
Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. J Biol Chem (1997) 1.02
Reduced brain choline in homocystinuria due to remethylation defects. Neurology (2008) 1.02
Congenital creatine transporter deficiency. Neuropediatrics (2002) 1.02
L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol (2006) 1.01
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta (1999) 1.01
Loss of zolpidem efficacy in the hippocampus of mice with the GABAA receptor gamma2 F77I point mutation. Eur J Neurosci (2005) 1.00
Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation. Mol Genet Metab (1998) 1.00
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. Clin Chim Acta (1983) 0.99
Inhibition of the pentose phosphate pathway decreases ischemia-reperfusion-induced creatine kinase release in the heart. Cardiovasc Res (2004) 0.99
Hyperhomocysteinemia is associated with the presence of retinopathy in type 2 diabetes mellitus: the Hoorn study. Arch Intern Med (2000) 0.99
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. Pediatr Res (1993) 0.99
Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography. J Inherit Metab Dis (1993) 0.98
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Mol Genet Metab (2005) 0.98
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr (1998) 0.98
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis (2005) 0.98
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. J Inherit Metab Dis (2007) 0.98
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism. J Inherit Metab Dis (2005) 0.98
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat (2005) 0.97
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis (1999) 0.97
Does metformin increase the serum total homocysteine level in non-insulin-dependent diabetes mellitus? J Intern Med (1997) 0.96
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. Neuropediatrics (2009) 0.96
Effects of folic acid and vitamin B6 supplementation on women with hyperhomocysteinemia and a history of preeclampsia or fetal growth restriction. Am J Obstet Gynecol (1998) 0.96
Respiratory failure and stimulation of glycolysis in Chinese hamster ovary cells exposed to normobaric hyperoxia. J Biol Chem (1990) 0.96
Combined vitamin B6 plus folic acid therapy in young patients with arteriosclerosis and hyperhomocysteinemia. J Vasc Surg (1994) 0.96
Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis (1996) 0.96
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet (2013) 0.96
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders. Clin Chem (1998) 0.95