Fast Facts: Pyruvate Kinase Deficiency

Bertil Glader; Wilma Barcellini And Rachael Grace

ISBN 10: 191079788X / ISBN 13: 9781910797884

Editore: S. Karger Publishers Ltd, 2018

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pp. 64.

Codice articolo 369714082

Dati bibliografici

• Titolo: Fast Facts: Pyruvate Kinase Deficiency
• Editore: S. Karger Publishers Ltd
• Data di pubblicazione: 2018
• Lingua: Inglese
• ISBN 10: 191079788X
• ISBN 13: 9781910797884
• Rilegatura: Brossura
• Condizione: Used

Descrizione articolo

Riassunto

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.