Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

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Synonyms: GSD due to phosphoglycerate kinase 1 deficiency | Glycogenosis due to phosphoglycerate kinase 1 deficiency

A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia myopathy and various central nervous system abnormalities.

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 May 2024

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Glycogen storage disease due to phosphoglycerate kinase 1 deficiency?

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Advocacy Organizations

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.