Published in J Inherit Metab Dis on January 01, 1996
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J Inherit Metab Dis (2007) 1.25
Comparative study of serine-plasmalogens in human retina and optic nerve: identification of atypical species with odd carbon chains. J Lipid Res (2012) 0.80
Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia. J Inherit Metab Dis (2006) 0.78
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. J Biol Chem (2016) 0.75
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
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
[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
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review. J Inherit Metab Dis (2008) 1.95
Prognostic factors after a first attack of inflammatory CNS demyelination in children. Neurology (2008) 1.70
Neisseria meningitidis strains with decreased susceptibility to penicillin. Pediatr Infect Dis J (1987) 1.67
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis (1980) 1.67
Implications of the FMR1 gene in menopause: study of 147 Spanish women. Menopause (2001) 1.58
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
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
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
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
[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
Coexistence of Gaucher disease type 1 and Joubert syndrome. J Med Genet (1998) 1.40
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
Determination of the absolute configuration of some biologically important urinary 2-hydroxydicarboxylic acids by capillary gas--liquid chromatography. J Chromatogr (1981) 1.36
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics (1986) 1.33
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun (1998) 1.27
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis (2001) 1.25
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut (2003) 1.24
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
The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr (1990) 1.21
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
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
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet (1989) 1.15
Prenatal diagnosis of Sanfilippo disease type B. Hum Genet (1984) 1.14
The unfolding clinical spectrum of POLG mutations. J Med Genet (2009) 1.14
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest (2004) 1.13
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics (2000) 1.10
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol (2005) 1.10
The role of nitric oxide in bacterial meningitis in children. J Infect Dis (1996) 1.10
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann Neurol (2000) 1.09
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc Natl Acad Sci U S A (1998) 1.09
Molecular and clinical characterization of a Moroccan Cog7 deficient patient. Mol Genet Metab (2007) 1.09
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). Am J Hum Genet (1993) 1.09
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet (2001) 1.08
New defects of pyrimidine metabolism. Adv Exp Med Biol (1984) 1.08
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr (1988) 1.08
Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis (2000) 1.08
D-lactic aciduria, an inborn error of metabolism? Clin Chim Acta (1977) 1.08
The role of hyperthyroidism in patients with myocardial infarction with normal coronary arteries. Angiology (2013) 1.07
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta (1984) 1.07
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr (1984) 1.06
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. Hum Genet (2000) 1.05
Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children. Pediatr Res (1999) 1.05
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.05
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology (2006) 1.04
Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? J Inherit Metab Dis (1978) 1.04
Clinical variability of isovaleric acidemia in a genetically homogeneous population. J Inherit Metab Dis (2012) 1.03
A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARalpha-dependent and -independent pathways. J Lipid Res (2005) 1.02
Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids. J Pediatr (1985) 1.02
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
Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation. Biochem Med Metab Biol (1993) 1.01
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. J Pediatr (1982) 1.00
Solomon's epidermal nevus syndrome (type: linear nevus sebaceus) and hypophosphatemic vitamin D-resistant rickets. Arch Dermatol (1994) 1.00
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. Eur J Pediatr (1993) 1.00
A patient with alpha-ketoadipic and alpha-aminoadipic aciduria. J Inherit Metab Dis (1984) 0.99
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis (1986) 0.99
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. J Clin Invest (1994) 0.99
Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha. J Lipid Res (2000) 0.99
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis (1997) 0.99
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. J Inherit Metab Dis (2002) 0.99
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr (1998) 0.98
Identification of glycosaminoglycans in age-related macular deposits. Arch Ophthalmol (1996) 0.98
Dietary folate from vegetables and citrus fruit decreases plasma homocysteine concentrations in humans in a dietary controlled trial. J Nutr (1999) 0.97
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder. J Inherit Metab Dis (1988) 0.97
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Hum Mutat (1998) 0.96
[Occlusive aortic disease as coral reef aorta--experience in 80 cases]. Zentralbl Chir (2010) 0.96
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis (1998) 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
Low-dose folic acid supplementation decreases plasma homocysteine concentrations: a randomized trial. Am J Clin Nutr (1999) 0.95
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol (1998) 0.95
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. Clin Chim Acta (2000) 0.95
Sequential MR imaging changes in nonketotic hyperglycinemia. AJNR Am J Neuroradiol (2006) 0.95
(2-Ethoxyethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids. Clin Chim Acta (1977) 0.95
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet (2000) 0.95