Acute presentations of inherited metabolic disease in adulthood
نویسندگان
چکیده
منابع مشابه
Acute 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 کامل'Inherited Metabolic Disease in Adults: A Clinical Guide'.
: Inherited Metabolic Disease in Adults: A Clinical Guide (Oxford Monographs on Medical Genetics) ISBN : #0199972133 | Date : 2016-08-16 Description : PDF-57425 | As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently...
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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
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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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A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs. Consequently, it has also allowed the reclassification of diseases ...
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ژورنال
عنوان ژورنال: Clinical Medicine
سال: 2008
ISSN: 1470-2118,1473-4893
DOI: 10.7861/clinmedicine.8-6-621