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glycogen storage disease type VIII

Used for:

glycogenosis type VIII

Used for:

hepatic phosphorylase kinase deficiency

Broader Terms:

glycogen storage disease

Scope Note:

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.

Term Number:

1849-4178


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