Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

MONDO:0010392

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.

Also known as: GSD due to phosphoglycerate kinase 1 deficiency, PGK1 glycogen storage disease, Phosphoglycerate Kinase Deficiency, glycogen storage disease caused by mutation in PGK1, glycogen storage disease due to phosphoglycerate kinase 1 deficiency, glycogenosis due to phosphoglycerate kinase 1 deficiency, phosphoglycerate kinase 1 deficiency, X-linked recessive, PGK deficiency

2 clinical trials for this condition and its sub-types, 0 tagged with Glycogen storage disease due to phosphoglycerate kinase 1 deficiency itself.

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