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Article

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Saudi medical journal - 1 Apr 2011

Ali Bassam R, Hertecant Jozef L, Al-Jasmi Fatima A, Hamdan Mohamed A, Khuri Sawsan F, Akawi Nadia A, Al-Gazali Lihadh I

Abstract excerpt

OBJECTIVE: To identify the mutations underlying a number of inborn errors of metabolism (IEM) disorders among United Arab Emirates (UAE) residents. METHODS: Molecular diagnostic and bioinformatics tools were used to identify the causative mutations of IEM disorders from multi-ethnic patients residing in UAE. The study was conducted in Al-Ain, UAE, between April 2009 and September 2010. This is a case series...

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PMID: 21483992

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