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• W4245451857 abstract "Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non-spherocytic haemolytic anaemia (HNSHA). The gene encoding the erythrocyte enzyme PGK1, is X-linked. Mutations of this gene may cause chronic haemolysis with or without mental retardation and they may cause myopathies, often with episodes of myoglobinuria, or a combination of these clinical manifestations. Twenty-six families have been described and in 20 of these the mutations are known. The reason for different clinical manifestations of mutations of the same gene remains unknown." @default.
• W4245451857 created "2022-05-12" @default.
• W4245451857 creator A5066463616 @default.
• W4245451857 date "2006-10-13" @default.
• W4245451857 modified "2023-10-17" @default.
• W4245451857 title "PGK deficiency" @default.
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• W4245451857 doi "https://doi.org/10.1111/j.1365-2141.2006.06351.x" @default.
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