Isolated and contiguous glycerol kinase gene disorders: a review.
Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT.
Sjarif DR, et al.
J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652.
J Inherit Metab Dis. 2000.
PMID: 11032329
Review.
Glycerol kinase deficiency (GKD) is an X-linked recessive disorder. There are two types. an isolated form and a complex form. ...From molecular genetic investigations of isolated GKD, 7 missense mutations, 2 splice site mutations, I nonsense mut …
Glycerol kinase deficiency (GKD) is an X-linked recessive disorder. There are two types. an isolated form and a …