Glycogen storage disease due to liver phosphorylase kinase deficiency

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Name:
Glycogen storage disease due to liver phosphorylase kinase deficiency
Description:
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
ORPHAcode:
264580
Synonyms:
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14