Glycogen storage disease due to muscle phosphorylase kinase deficiency

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Glycogen storage disease due to muscle phosphorylase kinase deficiency

Synonyms: GSD due to muscle phosphorylase kinase deficiency | GSD type 9D | GSD type 9E | GSD type IXd | GSD type IXe | Glycogen storage disease type 9D | Glycogen storage disease type 9E | Glycogen storage disease type IXd | Glycogen storage disease type IXe | Glycogenosis due to muscle phosphorylase kinase deficiency | Glycogenosis type 9D | Glycogenosis type 9E | Glycogenosis type IXd | Glycogenosis type IXe

Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Glycogen storage disease due to muscle phosphorylase kinase deficiency?

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Clinical Trials

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