Published in J Inherit Metab Dis on January 01, 1990
PAS10 is a tetratricopeptide-repeat protein that is essential for the import of most matrix proteins into peroxisomes of Saccharomyces cerevisiae. Proc Natl Acad Sci U S A (1993) 2.26
The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl-CoA under in vivo conditions. EMBO J (1995) 2.12
The SH3 domain of the Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import PTS1-containing proteins. J Cell Biol (1996) 1.77
The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae. EMBO J (1996) 1.72
An efficient positive selection procedure for the isolation of peroxisomal import and peroxisome assembly mutants of Saccharomyces cerevisiae. Genetics (1993) 1.53
Peroxisomal and mitochondrial carnitine acetyltransferases of Saccharomyces cerevisiae are encoded by a single gene. EMBO J (1995) 1.47
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis (2010) 1.29
Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest (1992) 1.20
Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid. J Inherit Metab Dis (1997) 1.19
The cytosolic DnaJ-like protein djp1p is involved specifically in peroxisomal protein import. J Cell Biol (1998) 1.16
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. J Clin Invest (1994) 1.13
Saccharomyces cerevisiae PTS1 receptor Pex5p interacts with the SH3 domain of the peroxisomal membrane protein Pex13p in an unconventional, non-PXXP-related manner. Mol Biol Cell (2000) 1.12
Carnitine-dependent transport of acetyl coenzyme A in Candida albicans is essential for growth on nonfermentable carbon sources and contributes to biofilm formation. Eukaryot Cell (2008) 0.96
Deletion of mitochondrial associated ubiquitin fold modifier protein Ufm1 in Leishmania donovani results in loss of β-oxidation of fatty acids and blocks cell division in the amastigote stage. Mol Microbiol (2012) 0.93
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis (2011) 0.87
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol Genet Metab (2012) 0.87
Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1994) 0.86
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency. JIMD Rep (2016) 0.84
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency. Br J Ophthalmol (1997) 0.83
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. JIMD Rep (2012) 0.82
Contributions of carnitine acetyltransferases to intracellular acetyl unit transport in Candida albicans. J Biol Chem (2010) 0.82
Increased lipolysis in LCHAD deficiency. J Inherit Metab Dis (2006) 0.80
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation. Mol Cell Proteomics (2015) 0.80
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet J Rare Dis (2015) 0.79
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. Ophthalmology (2016) 0.79
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. J Inherit Metab Dis (2010) 0.77
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. JIMD Rep (2012) 0.77
Triacylglycerol Storage in Lipid Droplets in Procyclic Trypanosoma brucei. PLoS One (2014) 0.75
Prenatal diagnosis of enzyme defects--an update. Arch Dis Child (1991) 0.75
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. J Hum Genet (2017) 0.75
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation. J Inherit Metab Dis (2000) 0.75
Reduced replication of 3TC-resistant HIV-1 variants in primary cells due to a processivity defect of the reverse transcriptase enzyme. EMBO J (1996) 3.92
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet (1999) 3.35
Use of real-time PCR and molecular beacons to detect virus replication in human immunodeficiency virus type 1-infected individuals on prolonged effective antiretroviral therapy. J Virol (1999) 3.15
Genotypic and phenotypic characterization of human immunodeficiency virus type 1 variants isolated from patients treated with the protease inhibitor nelfinavir. Antimicrob Agents Chemother (1998) 2.67
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet (1998) 2.62
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
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
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
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]. Ned Tijdschr Geneeskd (2008) 2.01
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet (2001) 1.95
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review. J Inherit Metab Dis (2008) 1.95
Determination of the primary structures of 16 asialo-carbohydrate units derived from human plasma alpha 1-acid glycoprotein by 360-MHZ 1H NMR spectroscopy and permethylation analysis. Biochemistry (1978) 1.92
Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin Cancer Res (2000) 1.91
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
Neisseria meningitidis strains with decreased susceptibility to penicillin. Pediatr Infect Dis J (1987) 1.67
Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis (1999) 1.67
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis (1980) 1.67
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet (2004) 1.64
Implications of the FMR1 gene in menopause: study of 147 Spanish women. Menopause (2001) 1.58
Serum homocysteine level and protein intake are related to risk of microalbuminuria: the Hoorn Study. Kidney Int (1998) 1.56
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Pediatr Res (1997) 1.53
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation. J Med Genet (2004) 1.53
Primary structure of the glycans from human lactotransferrin. Eur J Biochem (1982) 1.53
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell (1998) 1.52
A preliminary evaluation of nelfinavir mesylate, an inhibitor of human immunodeficiency virus (HIV)-1 protease, to treat HIV infection. J Infect Dis (1998) 1.50
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
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet (1993) 1.48
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
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun (1992) 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
[Lactic acidosis and accumulation of glutamate in the blood of neonates following treatment with calcium levulinate for hypocalcaemia]. Ned Tijdschr Geneeskd (2007) 1.40
Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring. Lancet (1996) 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
Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc Natl Acad Sci U S A (1980) 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
Determination of the absolute configuration of some biologically important urinary 2-hydroxydicarboxylic acids by capillary gas--liquid chromatography. J Chromatogr (1981) 1.36
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase. J Lipid Res (2000) 1.33
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics (1986) 1.33
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inherit Metab Dis (1999) 1.32
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
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
Newcastle disease virus contains a linkage-specific glycoprotein sialidase. Application to the localization of sialic acid residues in N-linked oligosaccharides of alpha 1-acid glycoprotein. J Biol Chem (1982) 1.29
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet (2001) 1.28
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. Proc Natl Acad Sci U S A (1990) 1.28
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun (1998) 1.27
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
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut (2003) 1.24
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
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency. Clin Cancer Res (2001) 1.22
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A (2005) 1.21
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet (2006) 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
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. J Inherit Metab Dis (2003) 1.17
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis (1996) 1.16
Differential distribution of apolipoprotein E isoforms in human plasma lipoproteins. Arteriosclerosis (1989) 1.16
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol (1992) 1.16
Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15
Treatment of a patient with histidinemia. Acta Paediatr Scand (1967) 1.15
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
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J (1999) 1.14
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis (1996) 1.13