Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 762, doi. 10.1023/A:1005572906807
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 6
Results: 13
1
2
The Leber hereditary optic neuropathy 14484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 760, doi. 10.1023/A:1005520922737
- By:
- Publication type:
- Article
3
Generalized glutathione synthetase deficiency and pregnancy.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 758, doi. 10.1023/A:1005564705898
- By:
- Publication type:
- Article
4
Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 756, doi. 10.1023/A:1005508620919
- By:
- Publication type:
- Article
5
Spontaneous pregnancy in a patient with classical galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 754, doi. 10.1023/A:1005504403173
- By:
- Publication type:
- Article
6
Intermittent jaundice in patients with acute leukaemia: A common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 747, doi. 10.1023/A:1005552302264
- By:
- Publication type:
- Article
7
A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 740, doi. 10.1023/A:1005500318194
- By:
- Publication type:
- Article
8
Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 733, doi. 10.1023/A:1005548201355
- By:
- Publication type:
- Article
9
Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 723, doi. 10.1023/A:1005544117285
- By:
- Publication type:
- Article
10
Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 706, doi. 10.1023/A:1005540016376
- By:
- Publication type:
- Article
11
Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 693, doi. 10.1023/A:1005587915468
- By:
- Publication type:
- Article
12
Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 687, doi. 10.1023/A:1005527731397
- By:
- Publication type:
- Article
13
Diagnostic Uses of DNA Analysis: Powerful but Problematic.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 685, doi. 10.1023/A:1017234414559
- Publication type:
- Article