نتایج جستجو برای: inherited
تعداد نتایج: 31514 فیلتر نتایج به سال:
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...
diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...
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...
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