منابع مشابه
Inherited neuropathies.
OPINION STATEMENT Inherited peripheral neuropathies are among the most common hereditary diseases of the nervous system. Charcot-Marie-Tooth (CMT) disease, also known from previous classifications as hereditary motor and sensory neuropathy (HMSN), is certainly the most common inherited neuropathy. In the past several years, various treatments for CMT have been proposed, although specific therap...
متن کاملInherited cardiomyopathies.
Editor—It was interesting to read Staikou and colleagues' 1 excellent review of Perioperative management of hereditary arrhythmogenic syndromes. This group of disorders seems to have previously been under represented in mainstream anaesthetic literature. The collective incidence of the group of disorders that are described means that all consultant anaesthetists will have anaesthetized a number...
متن کاملInherited thrombocytopenias.
Secondary causes of thrombocytopenia as immunologic thrombopenia purpura, or ITP, are far more common than inherited causes, which even as a group, are rare. Nevertheless, diagnosis is important and progress made in uncovering the molecular basis of these disorders has contributed greatly to our knowledge of these diseases. Inherited thrombocytopenias are a heterogeneous group of disorders. Dif...
متن کاملInherited thrombocytopenias.
Bleeding syndromes that arise through an inherited defect of platelet production constitute a heterogeneous group of rare platelet disorders of growing importance. Some, including the Bernard-Soulier syndrome (BSS) and Wiskott-Aldrich syndrome (WAS), associate a low circulating platelet count with a deficiency in a known functional protein (Table 1). In others, platelet dysfunction has not been...
متن کاملInherited cardiomyopathies.
From the Department of Genetics,* Harvard Medical School, Boston; the Cardiovascular Division,y Brigham and Women’s Hospital and Harvard Medical School, Boston; the Laboratory for Molecular Medicine,z Partners HealthCare Center for Personalized Genetic Medicine, Boston; and the Department of Pathology,x Massachusetts General Hospital, Brigham and Women’s Hospital and Harvard Medical School, Bos...
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ژورنال
عنوان ژورنال: Nature
سال: 1879
ISSN: 0028-0836,1476-4687
DOI: 10.1038/020077b0