Found: 31
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Glycogen storage disease type IV presenting as hydrops fetalis.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 330, doi. 10.1023/A:1005568507267
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- Article
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 311, doi. 10.1023/A:1005599903632
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- Article
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 247, doi. 10.1023/A:1005521702298
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Carnitine-acylcarnitine translocase deficiency is a treatable disease.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 271, doi. 10.1023/A:1005546408659
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- Article
3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 259, doi. 10.1023/A:1005577920954
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Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 327, doi. 10.1023/A:1005516523196
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Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 322, doi. 10.1023/A:1005512306358
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Molecular basis of Sjögren-Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patients.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 319, doi. 10.1023/A:1005508205450
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Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 314, doi. 10.1023/A:1005504104541
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- Article
Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 307, doi. 10.1023/A:1005543802724
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Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 302, doi. 10.1023/A:1005587617745
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Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 297, doi. 10.1023/A:1005531432766
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- Article
Adsorption of small hydroxy acids on glass: A pitfall in quantitative urinary organic acid analysis by GC-MS.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 293, doi. 10.1023/A:1005527315019
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Problems in the detection of fatty acid oxidation defects: Experience of a quality assurance programme for qualitative urinary organic acid analysis.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 289, doi. 10.1023/A:1005575214110
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Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C14:1ω-9) in the diagnosis of long-chain fatty acid oxidation defects.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 286, doi. 10.1023/A:1005567030040
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DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 281, doi. 10.1023/A:1005558828223
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- Article
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 276, doi. 10.1023/A:1005502626406
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What is the origin of 3-methylglutaconic acid?
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 251, doi. 10.1023/A:1005573819137
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- Article
Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 267, doi. 10.1023/A:1005590223680
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Prenatal diagnosis of Canavan disease — Problems and dilemmas.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 263, doi. 10.1023/A:1005534105933
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Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 240, doi. 10.1023/A:1005509400481
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Biochemistry of glutaric aciduria type I: Activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 256, doi. 10.1023/A:1005525903207
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- Article
Decreased circulating plasma lipids in patients with homocystinuria.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 243, doi. 10.1023/A:1005565518228
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Reduced glutathione, γ-glutamylcysteine, cysteine and γ-glutamylglutamine in γ-glutamyltransferase deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 235, doi. 10.1023/A:1005505315502
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Cystinylglycinuria: A new neurometabolic disorder?
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 231, doi. 10.1023/A:1005549114594
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- Article
Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes with NTBC treatment.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 227, doi. 10.1023/A:1005597029615
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Pyroglutamic aciduria and nephropathic cystinosis.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 224, doi. 10.1023/A:1005545012776
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- Article
Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 221, doi. 10.1023/A:1005540828706
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Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 216, doi. 10.1023/A:1005584627797
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Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 213, doi. 10.1023/A:1005532610051
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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 208, doi. 10.1023/A:1005533825980
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