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Deficiency of glycerol kinase

Known as: HYPERGLYCEROLEMIA, GKD, Glycerol kinase deficiency 
A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the… 
National Institutes of Health

Papers overview

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2000
2000
Using multiple exons trapped from human chromosome 21 (HC21)-specific cosmids with homology to a putative Arabidopsis thaliana… 
1999
1999
The cyclopentylpropylimidazolidinone L-766,892 is a potent beta3 AR agonist (EC50 5.7 nM, 64% activation) with 420- and 130-fold… 
1996
1996
We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK… 
1993
1993
Xp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The… 
1992
1992
The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular… 
1990
1990
Glycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal… 
Highly Cited
1987
Highly Cited
1987
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH… 
1987
1987
Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features… 
1982
1982