Barth syndrome: clinical observations and genetic linkage studies. [electronic resource]
Producer: 19940824Description: 255-64 p. digitalISSN:- 0148-7299
- Abnormalities, Multiple -- genetics
- Acids -- urine
- Cardiomyopathy, Dilated -- genetics
- Carnitine -- metabolism
- Diseases in Twins
- Dwarfism -- genetics
- Electron Transport
- Fasting -- blood
- Genes, Recessive
- Genetic Linkage
- Heart Failure -- genetics
- Hematopoiesis
- Humans
- Hypertrophy, Left Ventricular -- genetics
- Infant, Newborn
- Male
- Mitochondria, Muscle -- enzymology
- Mitochondrial Myopathies -- genetics
- Muscles -- pathology
- Neuromuscular Diseases -- genetics
- Neutropenia -- genetics
- Pedigree
- Syndrome
- X Chromosome
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Publication Type: Case Reports; Journal Article
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