Found: 12
Select item for more details and to access through your institution.
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 2, p. e1, doi. 10.1111/j.1469-8749.2009.03541.x
- By:
- Publication type:
- Article
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
- Published in:
- Human Genetics, 2000, v. 106, n. 2, p. 236, doi. 10.1007/s004390051033
- By:
- Publication type:
- Article
Leigh's disease due to a new mutation in the PDHX gene.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 4, p. 709
- By:
- Publication type:
- Article
Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 1, p. 121, doi. 10.1002/ana.20709
- By:
- Publication type:
- Article
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 2, p. 273
- By:
- Publication type:
- Article
Higher maternal than paternal inheritance of diabetes in GK rats.
- Published in:
- 1994
- By:
- Publication type:
- journal article
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 137, doi. 10.1002/humu.20449
- By:
- Publication type:
- Article
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.
- Published in:
- Human Mutation, 2001, v. 17, n. 5, p. 374, doi. 10.1002/humu.1112
- By:
- Publication type:
- Article
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 352, doi. 10.1002/humu.38
- By:
- Publication type:
- Article
Mutation analysis of the pyruvate dehydrogenase E<sub>1</sub>α gene in eight patients with a pyruvate dehydrogenase complex deficiency.
- Published in:
- Human Mutation, 1996, v. 7, n. 1, p. 46, doi. 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N
- By:
- Publication type:
- Article
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 307
- By:
- Publication type:
- Article
Myasthenic symptoms in patients with mitochondrial myopathies.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. 11, p. 1338, doi. 10.1002/mus.880181120
- By:
- Publication type:
- Article