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glykogenóza, typ VIII
Subject h. glykogenóza, typ VIII Subject h. Glycogen Storage Disease Type VIII Entry terms choroba z ukladania glykogénu, typ VIII
glykogenóza 8English X references Glycogenosis 8 Scope note in English An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. subject heading
Number of the records: 1