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Glycerol kinase deficiency in two brothers with and without clinical manifestations

✍ Scribed by Hans K:son Blomquist; Niklas Dahl; Lars Gustafsson; Christina Heilerud; Elisabeth Holme; Gösta Holmgren; Lars Matsson; Monika von Zweigbergk

Book ID
115091823
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
673 KB
Volume
50
Category
Article
ISSN
0009-9163

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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