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amylo 1,6 glucosidase deficiency
[autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase; clinical course is similar to that of glycogen storage disease type I, but milder; massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age; levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. ( CSP )]
UMLS (CSP) C0017922- Disease or Syndrome
Relation/PAR: glycogen storage disease
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