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Complex glycerol kinase deficiency: An X-linked disorder associated with adrenal hypoplasia congenita

✍ Scribed by Arvind Sehgal; Jacqueline Stack

Book ID
110671030
Publisher
Springer-Verlag
Year
2005
Tongue
English
Weight
222 KB
Volume
72
Category
Article
ISSN
0019-5456

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πŸ“œ SIMILAR VOLUMES

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

Characterisation of a Xp21 microdeletion
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita
✍ M. Stuhrmann; H. Heilbronner; A. Reis; R. -D. Wegner; P. Fischer; J. Schmidtke πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 249 KB

We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC. At present, he shows severe muscular