منابع مشابه
the laboratory diagnosis of inherited metabolic disorders
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...
متن کاملAn approach to the diagnosis of inherited metabolic disease.
http://ep.bmj.com/content/95/2/40.full.html Updated information and services can be found at: These include: References http://ep.bmj.com/content/95/2/40.full.html#ref-list-1 This article cites 15 articles, 3 of which can be accessed free at: service Email alerting box at the top right corner of the online article. Receive free email alerts when new articles cite this article. Sign up in the Notes
متن کاملThe Inherited Metabolic Diseases
I am usually highly resistant to exhortations from reviewers that a particular book is 'essential reading'. But now and again one appears which should command our attention and I urge all paediatricians to read Penelope Leach's new book. Her case is that 'post-industrial western societies', such as the UK, ignore or override the special needs of children to such an extent that they miss out and...
متن کاملAcute presentations of inherited metabolic disease in adulthood.
Clinical Medicine Vol 8 No 6 December 2008 621 © Royal College of Physicians, 2008. All rights reserved. It has been over a century since Sir Archibald Garrod first recognised the existence of inherited metabolic diseases (IMD).1 Technological and scientific advances have gradually led to greatly increased understanding of their aetiology and pathogenesis, and have ultimately resulted in effect...
متن کاملNutrition and animal models of inherited metabolic disease.
A review by Cornelius (1969) lists a large number of potential animal models of human disease: 93 in farm animals, 98 in cats and dogs and 116 in laboratory rodents (mainly in the mouse). This compendium can easily be brought up to date by the 3-monthly listings of the Institute of Laboratory Animal Resources to include many more animal models now used in research (ILAR News, 1976). Unfortunate...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1979
ISSN: 0022-202X
DOI: 10.1111/1523-1747.ep12541649