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1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency

✍ Scribed by Nakashima Koji; Ogawa Hitomi; Oda Susumu; Miwa Shiro

Book ID
115819927
Publisher
Elsevier Science
Year
1973
Tongue
English
Weight
252 KB
Volume
49
Category
Article
ISSN
0009-8981

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πŸ“œ SIMILAR VOLUMES

Myopathy and parkinsonism in phosphoglyc
Myopathy and parkinsonism in phosphoglycerate kinase deficiency
✍ Evangelia Sotiriou; Paul Greene; Sindu Krishna; Michio Hirano; Salvatore DiMauro πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 208 KB

## Abstract A 25‐year‐old man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the __PGK1__ gene identified the p.T378