نتایج جستجو برای: inherited

تعداد نتایج: 31514  

Journal: :Paediatrics and Child Health 2019

Journal: :Clinical and Experimental Dermatology 2019

Journal: :The American Naturalist 1910

Journal: :British Journal of Ophthalmology 1952

Journal: :Current treatment options in neurology 2011
Angelo Schenone Lucilla Nobbio Margherita Monti Bragadin Giulia Ursino Marina Grandis

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...

Journal: :genetics in the 3rd millennium 0
اتو پاوول ون دیگلن otto paul van diggelen professor of biochemistry, department of clinical genetics, genetic metabolic diseases section, erasmus university medial centre, rotterdam, netherlands ف.و ورهیجن f.w verheijen ج.س شوندرورد g.c schoonderwoerd ج.ج.ج رویتر g.j.g ruijter ج.ج.م هوجمانز j.g.m huijmans

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...

Journal: :British journal of anaesthesia 2012
W Fish

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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