Rare Bleeding Disorders: Genetic, Laboratory, Clinical, and Molecular Aspects
نویسندگان
چکیده
منابع مشابه
Rare bleeding disorders: genetic, laboratory, clinical, and molecular aspects. Preface.
Welcome to this special issue of Seminars in Thrombosis & Hemostasis. Characteristically, each issue of Seminars in Thrombosis & Hemostasis is theme driven, with each new issue devoted to a particular theme of relevance to thrombosis and hemostasis. The current issue of Seminars in Thrombosis & Hemostasis carries the theme of “Rare Bleeding Disorders” (RBDs) and is an update on a previous issue...
متن کاملRare Bleeding Disorders: Genetic, Laboratory, Clinical, and Molecular Aspects
Welcome to this special issue of Seminars in Thrombosis & Hemostasis. Characteristically, each issue of Seminars in Thrombosis & Hemostasis is theme driven, with each new issue devoted to a particular theme of relevance to thrombosis and hemostasis. The current issue of Seminars in Thrombosis & Hemostasis carries the theme of “Rare Bleeding Disorders” (RBDs) and is an update on a previous issue...
متن کاملMolecular genetic and clinical aspects of mitochondrial disorders in childhood.
Mitochondrial OXPHOS disorders are caused by mutations in mitochondrial or nuclear genes, which directly or indirectly affect mitochondrial oxidative phosphorylation (OXPHOS). Primary mtDNA abnormalities in children are due to rearrangements (deletions or duplications) and point mutations or insertions. Mutations in the nuclear-encoded polypeptide subunits of OXPHOS result in complex I and II d...
متن کاملrare bleeding disorders: a narrative review of epidemiology, molecular and clinical presentations, diagnosis and treatment
rare bleeding disorders (rbds) are a heterogeneous group of disorders including different types of coagulation factor deficiencies. the disorders are inherited in an autosomal recessive manner with different frequencies varying from 1:500000 to 1:2000000. patients affected with rbds are presented with a wide spectrum of clinical manifestations ranging from mild to life threatening bleeding diat...
متن کاملRare bleeding disorders.
During the haemostatic response, the formation of a primary platelet plug limits bleeding and provides a surface for clotting factors to assemble and become activated. The initial platelet plug is stabilized by fibrin monomers, covalently cross-linked by FXIII, forming a platelets-fibrin thrombus. Defects in platelets as well as inherited deficiencies of coagulation factors including fibrinogen...
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ژورنال
عنوان ژورنال: Seminars in Thrombosis and Hemostasis
سال: 2013
ISSN: 0094-6176,1098-9064
DOI: 10.1055/s-0033-1354560