Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
about
Investigation and management of the hepatic glycogen storage diseasesMuscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of casesSevere phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.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.Glycogen storage diseases: Diagnosis, treatment and outcome
P2860
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P2860
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2000 թվականի մայիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@ast
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@en
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@nl
type
label
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@ast
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@en
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@nl
prefLabel
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@ast
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@en
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@nl
P2093
P356
P1476
Phosphorylase kinase deficient ...... G2 mutations (H144Y and L225R)
@en
P2093
B Burwinkel
M S Tanner
M W Kilimann
P356
10.1136/JMG.37.5.376
P407
P577
2000-05-01T00:00:00Z