Inherited platelet disorders

The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentat...

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Veröffentlicht in:Hematology 2005, Vol.2005 (1), p.396-402
1. Verfasser: Handin, Robert I
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description The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentation we will review disorders of the platelet membrane, platelet granule packaging disorders, the hereditary macrothrombocytopenias, platelet signaling disorders and disorders of platelet coagulant function. The molecular basis of the disorders, the cardinal features of their clinical presentation and best methods to make their diagnosis and the latest information regarding therapy will be presented.
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subjects Bernard-Soulier Syndrome - pathology
Bernard-Soulier Syndrome - physiopathology
Blood Coagulation Disorders - genetics
Blood Platelet Disorders - genetics
Blood Platelets - metabolism
Blood Platelets - physiology
Cytoplasmic Granules - pathology
Humans
Receptors, Collagen - deficiency
Signal Transduction
Thrombasthenia - pathology
Thrombasthenia - physiopathology
Thrombocytopenia - genetics
von Willebrand Diseases - pathology
von Willebrand Diseases - physiopathology
title Inherited platelet disorders
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