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Deficiency of glycerol kinase
Known as:
HYPERGLYCEROLEMIA
, GKD
, Glycerol kinase deficiency
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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…
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National Institutes of Health
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Related topics
Related topics
13 relations
Frontal bossing
GK gene
GK wt Allele
Hypoglycemia
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Broader (1)
Glycerol Kinase
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2000
2000
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase…
L. Bartoloni
,
M. Wattenhofer
,
+14 authors
S. Antonarakis
Genomics
2000
Corpus ID: 9876639
Using multiple exons trapped from human chromosome 21 (HC21)-specific cosmids with homology to a putative Arabidopsis thaliana…
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1999
1999
Human beta3 adrenergic receptor agonists containing imidazolidinone and imidazolone benzenesulfonamides.
E. M. Naylor
,
E. Parmee
,
+16 authors
A. Weber
Bioorganic & Medicinal Chemistry Letters
1999
Corpus ID: 7920827
The cyclopentylpropylimidazolidinone L-766,892 is a potent beta3 AR agonist (EC50 5.7 nM, 64% activation) with 420- and 130-fold…
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1996
1996
Mutations and phenotype in isolated glycerol kinase deficiency.
A. Walker
,
F. Muscatelli
,
+7 authors
A. Monaco
American Journal of Human Genetics
1996
Corpus ID: 20958259
We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK…
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1993
1993
Mental retardation locus in Xp21 chromosome microdeletion.
M. Fries
,
R. Lebo
,
+4 authors
M. Golbus
American journal of medical genetics
1993
Corpus ID: 36365442
Xp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The…
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1992
1992
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
A. Walker
,
J. Chelly
,
+7 authors
D. Price
Human Molecular Genetics
1992
Corpus ID: 23269253
The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular…
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1990
1990
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
D. Pillers
,
R. Weleber
,
B. Powell
,
C. E. Hanna
,
R. Magenis
,
N. Buist
American journal of medical genetics
1990
Corpus ID: 33473794
Glycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal…
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Highly Cited
1987
Highly Cited
1987
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
U. Francke
,
J. Harper
,
+7 authors
J. Harpey
American Journal of Human Genetics
1987
Corpus ID: 43295200
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH…
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1987
1987
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
J. Wise
,
R. Matalon
,
A. Morgan
,
E. McCabe
A M A Journal of Diseases of Children
1987
Corpus ID: 38387500
Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features…
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1984
1984
Activator protein-deficient metachromatic leukodystrophy: diagnosis in leukocytes using immunologic methods.
S. Fujibayashi
,
K. Inui
,
D. Wenger
Jornal de Pediatria
1984
Corpus ID: 44322794
1982
1982
'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.
Y. Goussault
,
E. Turpin
,
+4 authors
J. Rouffy
Clinica chimica acta; international journal of…
1982
Corpus ID: 12880241
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