Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 5
Results: 15
Research article.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 0, doi. 10.1023/A:1017488432262
- Publication type:
- Article
Increased fertility in a woman with classic galactosaemia.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 507, doi. 10.1023/A:1012432231353
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- Article
Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 605, doi. 10.1023/A:1012480130445
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- Article
Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 603, doi. 10.1023/A:1012428113606
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- Article
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 601, doi. 10.1023/A:1012476029536
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- Article
Successful pregnancy outcome in atypical hyperglycinaemia.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 599, doi. 10.1023/A:1012424012698
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- Publication type:
- Article
Propionic acidaemia with basal ganglia stroke: Treatment of acute extrapyramidal symptoms with L-DOPA.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 596, doi. 10.1023/A:1012471928628
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- Article
Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 587, doi. 10.1023/A:1012419911789
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- Publication type:
- Article
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 577, doi. 10.1023/A:1012467827719
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- Publication type:
- Article
Phenotype variability in 130 adult patients with respiratory chain disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 560, doi. 10.1023/A:1012415810881
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- Article
A case of PDH-E1α mosaicism in a male patient with severe metabolic lactic acidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 551, doi. 10.1023/A:1012463726810
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- Publication type:
- Article
Decreased half-life of insulin-like growth factor I in Rabson–Mendenhall syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 546, doi. 10.1023/A:1012411709972
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- Publication type:
- Article
Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 535, doi. 10.1023/A:1012459625902
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- Publication type:
- Article
Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 527, doi. 10.1023/A:1012407609063
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- Publication type:
- Article
Mutation analysis in Turkish patients with hereditary fructose intolerance.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 523, doi. 10.1023/A:1012423624993
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- Publication type:
- Article