Fast Facts: Pyruvate Kinase Deficiency (eBook, ePUB)

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You may be unfamiliar with pyruvate kinase (PK) deficiency. It is a rare inherited enzyme disorder that affects the glycolytic pathway used by red blood cells to generate energy, manifesting as hemolytic anemia. The symptoms vary greatly between individuals, making diagnosis difficult, and management primarily comprises supportive treatments. Written by experts in the field, 'Fast Facts: Pyruvate Kinase Deficiency' provides a comprehensive introduction to the condition, including details of: ; the underlying defect; its mode of inheritance, and the relationship between genotype and phenotype; ...

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