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Article: Inherited giant platelet disorders. Classification and literature review.

Mhawech, P / Saleem, A

American journal of clinical pathology

2000  Volume 113, Issue 2, Page(s) 176–190

Abstract: Inherited giant platelet disorders are extremely rare. The aim of this article is to review ... abnormalities. The pathophysiology of these disorders is largely unknown, and more research is needed ... the clinical and laboratory features of this heterogeneous group and to arrive at a working classification ...

Abstract Inherited giant platelet disorders are extremely rare. The aim of this article is to review the clinical and laboratory features of this heterogeneous group and to arrive at a working classification. We conducted our literature search using the National Library of Medicine database. A total of 12 clinical entities were described. We classified them into 4 groups depending on the clinical and structural abnormalities. The pathophysiology of these disorders is largely unknown, and more research is needed, particularly in the light of recent advances in laboratory medicine. This review may provide a valuable reference for clinicians and may form a basis for future classification and research.
MeSH term(s) Bernard-Soulier Syndrome/blood ; Bernard-Soulier Syndrome/classification ; Bernard-Soulier Syndrome/diagnosis ; Bernard-Soulier Syndrome/genetics ; Blood Platelets/ultrastructure ; CD36 Antigens/genetics ; Humans ; Platelet Aggregation ; Platelet Glycoprotein GPIb-IX Complex/genetics ; Thrombocytopenia/genetics
Chemical Substances CD36 Antigens ; Platelet Glycoprotein GPIb-IX Complex
Language English
Publishing date 2000-02
Publishing country England
Document type Journal Article ; Review
ZDB-ID 2944-0
ISSN 1943-7722 ; 0002-9173
ISSN (online) 1943-7722
ISSN 0002-9173
DOI 10.1309/FC4H-LM5V-VCW8-DNJU
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