Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
about
Mutations and phenotype in isolated glycerol kinase deficiencyGlobal metabolic effects of glycerol kinase overexpression in rat hepatoma cells.Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes.Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasiaDisruption of glycerol metabolism by RNAi targeting of genes encoding glycerol kinase results in a range of phenotype severity in Drosophila.Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction.Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia.Isolated glycerol kinase deficiency in a neonate.
P2860
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P2860
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
description
1977 nî lūn-bûn
@nan
1977年の論文
@ja
1977年学术文章
@wuu
1977年学术文章
@zh-cn
1977年学术文章
@zh-hans
1977年学术文章
@zh-my
1977年学术文章
@zh-sg
1977年學術文章
@yue
1977年學術文章
@zh
1977年學術文章
@zh-hant
name
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
@en
type
label
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
@en
prefLabel
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
@en
P2093
P1476
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
@en
P2093
D J Sceats
E R McCabe
M A Guggenheim
P V Fennessey
S I Goodman
W W Bullen
P304
P356
10.1016/0006-291X(77)91437-1
P577
1977-10-01T00:00:00Z