Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation
| Autor: | J Winer, A Green, Stuart H. Green, M A Preece, R. G. F. Gray, William P Whitehouse |
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| Jazyk: | angličtina |
| Rok vydání: | 2000 |
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| Popis: | In 1927 Archibald Garrod presented the Huxley Lecture at Charing Cross Hospital1 Out of this lecture emerged the concept of an “inborn error of metabolism” whereby an inherited defect may lead to the accumulation in cells or body fluids of a metabolite which in itself may predispose to disease. The disorders cited as examples were all adult onset disorders. Today there are over 200 known inborn errors of metabolism; however, the vast majority of cases reported are of childhood onset ( |
| Databáze: | OpenAIRE |
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