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 |
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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. |
doi_str_mv | 10.1182/asheducation-2005.1.396 |
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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.</description><subject>Bernard-Soulier Syndrome - pathology</subject><subject>Bernard-Soulier Syndrome - physiopathology</subject><subject>Blood Coagulation Disorders - genetics</subject><subject>Blood Platelet Disorders - genetics</subject><subject>Blood Platelets - metabolism</subject><subject>Blood Platelets - physiology</subject><subject>Cytoplasmic Granules - pathology</subject><subject>Humans</subject><subject>Receptors, Collagen - deficiency</subject><subject>Signal Transduction</subject><subject>Thrombasthenia - pathology</subject><subject>Thrombasthenia - physiopathology</subject><subject>Thrombocytopenia - genetics</subject><subject>von Willebrand Diseases - pathology</subject><subject>von Willebrand Diseases - physiopathology</subject><issn>1520-4391</issn><issn>1520-4383</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkE1Lw0AURQdRbK3-A9Gu3CW-efOVLKVULRTc6HqYZF5oJE3iTLLw35vSoq7eXZx7HxzG7jmknGf46OKO_Fi6oe7aBAFUylOR6zM25wohkSIT57855zN2FeMnAJcC8ZLNuBYgJYc5u920Owr1QH7ZN26ghoalr2MXPIV4zS4q10S6Od0F-3hev69ek-3by2b1tE1KNEonFSBQhWAUeMcVyExo8t5JWWI2EYVWWvgyN8aQ0UA5kvOotKy0M0UhxII9HHf70H2NFAe7r2NJTeNa6sZodZahRA0TaI5gGboYA1W2D_XehW_LwR7E2P9i7EGM5XYSMzXvTi_GYk_-r3cyIX4A1yJg8Q</recordid><startdate>2005</startdate><enddate>2005</enddate><creator>Handin, Robert I</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>2005</creationdate><title>Inherited platelet disorders</title><author>Handin, Robert I</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2756-f020ef20750da1504836edda44c28275b6563dc9777e760e92ead2564f6a7bb33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Bernard-Soulier Syndrome - pathology</topic><topic>Bernard-Soulier Syndrome - physiopathology</topic><topic>Blood Coagulation Disorders - genetics</topic><topic>Blood Platelet Disorders - genetics</topic><topic>Blood Platelets - metabolism</topic><topic>Blood Platelets - physiology</topic><topic>Cytoplasmic Granules - pathology</topic><topic>Humans</topic><topic>Receptors, Collagen - deficiency</topic><topic>Signal Transduction</topic><topic>Thrombasthenia - pathology</topic><topic>Thrombasthenia - physiopathology</topic><topic>Thrombocytopenia - genetics</topic><topic>von Willebrand Diseases - pathology</topic><topic>von Willebrand Diseases - physiopathology</topic><toplevel>online_resources</toplevel><creatorcontrib>Handin, Robert I</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Hematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Handin, Robert I</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Inherited platelet disorders</atitle><jtitle>Hematology</jtitle><addtitle>Hematology Am Soc Hematol Educ Program</addtitle><date>2005</date><risdate>2005</risdate><volume>2005</volume><issue>1</issue><spage>396</spage><epage>402</epage><pages>396-402</pages><issn>1520-4391</issn><eissn>1520-4383</eissn><abstract>The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. 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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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