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

Medizinische Klinik (Munich, Germany : 1983) - 15 Oct 1996

Müller P, Bührdel P, Freidt B, Böhme H J

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Child, Preschool
Diagnosis, Differential
Genes, Recessive
Genetic Carrier Screening
Glycogen Storage Disease
Phenotype
Sex Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 9019646

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

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