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Fast Facts : Pyruvatkinase-Mangel
Authors: --- ---
ISBN: 1912776839 1912776820 Year: 2019 Publisher: Oxford : Karger,

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Abstract

Keywords

emolytic anemia.


Book
Fast Facts : Pyruvate Kinase Deficiency
Authors: --- ---
ISBN: 1910797898 191079788X Year: 2018 Publisher: Abingdon, England : Karger,

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Abstract

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 • how the condition manifests • the fundamentals of diagnosis and how to differentiate it from a heterogeneous group of hemolytic disorders • monitoring and managing the complications that may arise. 'Fast Facts: Pyruvate Kinase Deficiency' will be of interest to primary care providers, hematologists, oncologists, pediatricians, internal medicine specialists, hematology nurses and medical students; indeed, anyone who wishes to learn more about this rare genetic blood disorder. Contents: • Overview • Epidemiology and etiology • Differential diagnosis • Diagnosis of pyruvate kinase deficiency • Complications and monitoring • Supportive treatment

Keywords

emolytic anemia.

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