Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 2
Results: 13
Acute pancreatitis in homocystinuria.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 190, doi. 10.1023/A:1005682219894
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Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 188, doi. 10.1023/A:1005630218986
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Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 185, doi. 10.1023/A:1005626102147
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The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 175, doi. 10.1023/A:1005622001239
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Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 162, doi. 10.1023/A:1005669900330
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Multiple mtDNA deletions: Clinical and molecular correlations.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 155, doi. 10.1023/A:1005617916260
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Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 145, doi. 10.1023/A:1005665732189
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Pulmonary hypertension associated with nonketotic hyperglycinaemia.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 137, doi. 10.1023/A:1005613715351
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Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 129, doi. 10.1023/A:1005661631281
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Novel mutations cause biotinidase deficiency in Turkish children.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 120, doi. 10.1023/A:1005609614443
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Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 113, doi. 10.1023/A:1005657530372
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Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 107, doi. 10.1023/A:1005605513534
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- Article
Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 95, doi. 10.1023/A:1005695229464
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- Article