Glycogen storage disease due to muscle beta-enolase deficiency

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Glycogen storage disease due to muscle beta-enolase deficiency

Synonyms: GSD due to muscle beta-enolase deficiency | GSDXIII | Glycogenosis due to muscle beta-enolase deficiency | Glycogenosis type 13 | Muscle enolase deficiency | Muscular enolase deficiency

A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.

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 beta-enolase deficiency?

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Clinical Trials

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