𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiency

✍ Scribed by Melissa Rhodes; Linda Ashford; Becky Manes; Cassie Calder; Jennifer Domm; Haydar Frangoul


Book ID
108677057
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
63 KB
Volume
152
Category
Article
ISSN
0007-1048

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Altered expression of PGK1 in a family w
✍ Eva K. Svaasand; Jan Aasly; VeslemΓΈy Malm Landsem; Helge Klungland πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 147 KB

## Abstract The X‐linked recessive disease phosphoglycerate kinase (PGK) deficiency is caused by altered expression of the PGK1 enzyme, which causes muscle stiffness, hemolytic anemia, and mental retardation. In this study we characterized the __PGK1__ gene in a family of two brothers, two sisters,

Myopathy and parkinsonism in phosphoglyc
✍ 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