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Autor:
Christopher Lambert, Tania Senior McKenzie, Claire Laas, David C. Rees, Philip Davidson, Ewart Sheldon, Barnaby Clark
Publikováno v:
British journal of haematologyReferences. 193(5)
Pyruvate kinase (PK) deficiency is an autosomal recessive disease caused by mutations in the PKLR gene, which reduce erythrocyte PK enzyme activity and result in decreased energy synthesis in red cells, causing haemolytic anaemia. Historically, the i