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Book
Fast Facts : A Rare Genetic Disease That Affects Red Blood Cells.
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ISBN: 1910797928 191079791X Year: 2019 Publisher: Basel : S. Karger AG,

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Abstract

Pyruvate kinase deficiency is a rare genetic disease that causes red blood cells to break apart. Despite an ever-growing understanding of the disease, it remains unfamiliar to many healthcare professionals, and the information available to patients is limited. This superbly illustrated workbook is designed to help patients equip themselves with the best information about their condition to improve the conversations they have about it with their doctors and nurses. Contents: • What is pyruvate kinase deficiency? • What causes PK deficiency? • How is PK deficiency diagnosed? • How will PK deficiency affect me or my child? • Treating PK deficiency • What sort of monitoring might I need? • Special situations • When should I see my doctor? • What can I do to help myself?

Keywords

Hematology


Book
Fast Facts : Una Rara Malattia Genetica Che Colpisce I Globuli Rossi.
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ISBN: 1912776774 1912776766 Year: 2019 Publisher: Basel : S. Karger AG,

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Fast Facts : Une Maladie Génétique Rare Qui Affecte les Globules Rouges.
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ISBN: 3318065633 3318065625 Year: 2019 Publisher: Basel : S. Karger AG,

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Keywords

Blood --- Diseases.


Book
Fast Facts para pacientes y familiares: Deficiencia de piruvato quinasa
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ISBN: 1912776987 1912776979 Year: 2019 Publisher: Basel : S. Karger AG,

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Fast Facts : Eine Seltene Genetische Erkrankung der Roten Blutkörperchen.
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ISBN: 1912776952 1912776944 Year: 2019 Publisher: Basel : S. Karger AG,

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

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Keywords

emolytic anemia.


Book
Fast Facts:Deficit di piruvato chinasi
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ISBN: 1912776898 191277688X Year: 2019 Publisher: Oxford : Karger,

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Fast Facts:Déficit en pyruvate kinase
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ISBN: 1912776928 191277691X Year: 2019 Publisher: Oxford : Karger,

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Book
Fast Facts:Deficiencia de piruvato quinasa
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ISBN: 1912776863 1912776855 Year: 2019 Publisher: Abingdon, Oxford : Karger,

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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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