| Literature DB >> 2878616 |
S DiMauro, A F Miranda, S Sakoda, E A Schon, S Servidei, S Shanske, M Zeviani.
Abstract
Six glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency) are reviewed to illustrate: clinical heterogeneity, biochemical heterogeneity, evidence for tissue-specific and developmentally controlled isozymes, and molecular genetic studies.Entities:
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Year: 1986 PMID： 2878616 DOI： 10.1002/ajmg.1320250406
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299