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Fast Facts: Pyruvate Kinase Deficiency
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
- Cover
- Title Page
- Copyright
- Contents
- List of abbreviations
- Glossary
- Introduction
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Overview
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Metabolic pathways in normal red blood cells
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Impact of enzyme disorders on red blood cells
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Manifestations of glycolytic enzyme disorders
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Pyruvate kinase isozymes
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Epidemiology and etiology
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Prevalence of pyruvate kinase deficiency
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Mutations associated with pyruvate kinase deficiency
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Acquired pyruvate kinase deficiency
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Differential diagnosis
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Assessment
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Acquired hemolytic anemias
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Congenital hemolytic anemias
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Hemolytic markers of disease
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Diagnosis of pyruvate kinase deficiency
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Clinical signs and symptoms
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Laboratory testing
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Assessment of enzyme activity
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DNA sequence analysis of the PKLR gene
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Genotype–phenotype relationship
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Complications and monitoring
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Main complications
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Special considerations in pregnancy
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Complications in the newborn
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Supportive treatment
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Transfusions
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Splenectomy
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Folic acid
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- Useful resources
- Index
- 出版地 : 德國
- 語言 : 德文
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