Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.

Item
http://www.wikidata.org/entity/Q34224330
Investigation and management of the hepatic glycogen storage diseasesGenome instability in blood cells of a BRCA1+ breast cancer family.Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles.Salt-inducible Kinase 3 Signaling Is Important for the Gluconeogenic Programs in Mouse Hepatocytes.Secondary causes of nonalcoholic fatty liver disease.Aggressive therapy improves cirrhosis in glycogen storage disease type IX.Aberrantly methylated genes in human papillary thyroid cancer and their association with BRAF/RAS mutation.Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.Growth in patients with type 1 diabetes.glycogen phosphorylase (PYGL) dimer b + 2 ATP => glycogen phosphorylase (PYGL) dimer a + 2 ADPGlycogen storage diseases: Diagnosis, treatment and outcome
P2860

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.

Item
http://www.wikidata.org/entity/Q34224330
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
name
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@ast
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@en
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@nl
type
label
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@ast
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@en
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@nl
prefLabel
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@ast
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@en
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P356
P1433
P1476
Severe phenotype of phosphoryl ...... h mutations in the PHKG2 gene.
@en
P2093
P2860
P2888
P304
P31
P356
10.1203/01.PDR.0000088069.09275.10
P407
P433
P478
P50
P577
P6179
P698