𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency

✍ Scribed by Ramanjam, V.; Delport, S.; Wilmshurst, J. M.

Book ID
121505943
Publisher
SAGE Publications
Year
2010
Tongue
English
Weight
106 KB
Volume
25
Category
Article
ISSN
0883-0738

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Hyperketonaemia in glycerol kinase defic
Hyperketonaemia in glycerol kinase deficiency
✍ D. R. Sjarif; L. Dorland; W. Sperl; T. J. de Koning; F. A. Beemer; B. T. Poll-Th πŸ“‚ Article πŸ“… 2000 πŸ› Springer 🌐 English βš– 58 KB
Complex glycerol kinase deficiency: A co
Complex glycerol kinase deficiency: A contiguous gene syndrome involving the Duchenne muscular dystrophy, glycerol kinase, and adrenal hypoplasia congenita loci
✍ McCabe, Edward R. B. ;Guo, Weiwen ;Burris, Thomas P. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 795 KB

Complex glycerol kinase deficiency is a contiguous gene syndrome that involves deletion of the glycerol kinase (GK) gene along with the loci for Duchenne muscular dystrophy (DMD) and/or adrenal hypoplasia congenita (AHC). The deletion breakpoints in these patients allowed identification of the criti