Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 1
Results: 15
Pyridoxine-responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine:glyoxalate aminotransferase activity.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 91, doi. 10.1023/A:1005615417126
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Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 88, doi. 10.1023/A:1005663200288
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Protein, glucose and energy metabolism in Gaucher disease type I.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 86, doi. 10.1023/A:1005611216218
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The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 85, doi. 10.1023/A:1005659132147
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Neurological deterioration in adult phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 83, doi. 10.1023/A:1005607115309
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The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 77, doi. 10.1023/A:1005655031239
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A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 63, doi. 10.1023/A:1005603014401
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Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann–Pick C mice.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 54, doi. 10.1023/A:1005650930330
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Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 45, doi. 10.1023/A:1005646813492
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Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 27, doi. 10.1023/A:1005694712583
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Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 22, doi. 10.1023/A:1005642728513
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Treatment of late-onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoate.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 15, doi. 10.1023/A:1005690611675
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Brain phenylalanine concentration in the management of adults with phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 7, doi. 10.1023/A:1005638627604
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Psychiatric symptoms of inherited metabolic disease.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 2, doi. 10.1023/A:1005685010766
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- Article
Editorial changes.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 1, doi. 10.1023/A:1017215126696
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- Article