Article
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Genetic testing and molecular biomarkers - 1 May 2012
Ben-Rebeh Imen, Hertecant Jozef L, Al-Jasmi Fatma A, Aburawi Hanan E, Al-Yahyaee Said A, Al-Gazali Lihadh, Ali Bassam R
Abstract excerpt
Inborn errors of metabolism (IEM) are frequently encountered by physicians in the United Arab Emirates (UAE). However, the mutations underlying a large number of these disorders have not yet been determined. Therefore, the objective of this study was to identify the mutations underlying a number of IEM disorders among UAE residents from both national and expatriate families. A case series of patients from 34...
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