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Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

โœ Scribed by Edward R.B. McCabe; Paul V. Fennessey; Mary Anne Guggenheim; Barbara S. Miles; William W. Bullen; Donald J. Sceats; Stephen I. Goodman


Book ID
118311959
Publisher
Elsevier Science
Year
1977
Tongue
English
Weight
367 KB
Volume
78
Category
Article
ISSN
0006-291X

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Glycerol kinase deficiency has three distinct forms: an isolated form which may be benign or symptomatic, and a complex form which is symptomatic and part of an Xp21 contiguous gene syndrome. Here we report the case of a male with benign isolated glycerol kinase deficiency who was incidentally ident