Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 6
Results: 13
Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 762, doi. 10.1023/A:1005572906807
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The Leber hereditary optic neuropathy 14484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 760, doi. 10.1023/A:1005520922737
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- Article
Generalized glutathione synthetase deficiency and pregnancy.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 758, doi. 10.1023/A:1005564705898
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Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 756, doi. 10.1023/A:1005508620919
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Spontaneous pregnancy in a patient with classical galactosaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 754, doi. 10.1023/A:1005504403173
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Intermittent jaundice in patients with acute leukaemia: A common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 747, doi. 10.1023/A:1005552302264
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A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 740, doi. 10.1023/A:1005500318194
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- Article
Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 733, doi. 10.1023/A:1005548201355
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- Article
Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 723, doi. 10.1023/A:1005544117285
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- Article
Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 706, doi. 10.1023/A:1005540016376
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Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 693, doi. 10.1023/A:1005587915468
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- Article
Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 687, doi. 10.1023/A:1005527731397
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- Article
Diagnostic Uses of DNA Analysis: Powerful but Problematic.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 685, doi. 10.1023/A:1017234414559
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- Article