Found: 7
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Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.
- Published in:
- 1997
- By:
- Publication type:
- journal article
OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation?
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 4, p. 473, doi. 10.1023/B:BOLI.0000037339.25821.87
- By:
- Publication type:
- Article
Carnitine transport: Pathophysiology and metabolism of known molecular defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 2/3, p. 147, doi. 10.1023/A:1024481016187
- By:
- Publication type:
- Article
Glucose-free medium exacerbatesmicrovesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 547, doi. 10.1023/A:1022039206660
- By:
- Publication type:
- Article
An additional mitochondrial tRNA<sup>Ile</sup> point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy.
- Published in:
- Human Mutation, 1996, v. 8, n. 3, p. 216, doi. 10.1002/(SICI)1098-1004(1996)8:3<216::AID-HUMU4>3.0.CO;2-7
- By:
- Publication type:
- Article
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy.
- Published in:
- Annals of Neurology, 1991, v. 30, n. 3, p. 415, doi. 10.1002/ana.410300315
- By:
- Publication type:
- Article