Found: 12
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Neuronal ceroid lipofuscinoses: detection of atypical forms.
- Published in:
- Neurological Sciences, 2000, v. 21, p. S57, doi. 10.1007/s100720070041
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- Publication type:
- Article
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
- Published in:
- 1998
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- Publication type:
- journal article
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- 1998
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- Publication type:
- journal article
Clinical and molecular features of mitochondrial DNA depletion syndromes.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 143, doi. 10.1007/s10545-008-1038-z
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- Publication type:
- Article
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 15, doi. 10.1023/A:1005638218246
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- Publication type:
- Article
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 755, doi. 10.1023/A:1005663804214
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- Publication type:
- Article
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 593, doi. 10.1023/A:1005565610613
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- Publication type:
- Article
Fumarate hydratase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 435, doi. 10.1023/A:1005379330187
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- Publication type:
- Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
- Published in:
- 2006
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- Publication type:
- journal article
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
- Published in:
- 2005
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- Publication type:
- journal article
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.
- Published in:
- 2002
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- Publication type:
- journal article
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
- Published in:
- 2001
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- Publication type:
- journal article