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Article

Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)

Journal of medical genetics - 1 May 2000

Burwinkel B, Tanner M S, Kilimann M W

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Topics

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Share to Disease Progression
Share to Glycogen
Share to Glycogen Storage Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 10905889
DOI: 10.1136/jmg.37.5.376
PMCID: PMC1734590

Genes

PHKG2

Variants

Provenance

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Related research

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Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)PMID 10905889Read ↗

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

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.Semantic proximity Read ↗

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.Semantic proximity Read ↗

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.Semantic proximity Read ↗

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.Semantic proximity Read ↗

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.Semantic proximity Read ↗

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.Semantic proximity Read ↗

[Different phenotypes of type IXb glycogenosis (phosphorylase-b-kinase deficiency) in adult- and early childhood].Semantic proximity Read ↗

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.Semantic proximity Read ↗

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Semantic proximity Read ↗

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.Semantic proximity Read ↗

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.Semantic proximity Read ↗

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