Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates

Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal storage diseases [LSD]) at Tawam Hospital Meta...

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Bibliographic Details
Main Authors: Aisha Al-Shamsi, Jozef L. Hertecant, Sania Al-Hamad, Abdul-Kader Souid, Fatma Al-Jasmi
Format: Article
Language:English
Published: Sultan Qaboos University 2014-02-01
Series:Sultan Qaboos University Medical Journal
Subjects:
metabolism, inborn errors
mutations
prevalence
founder effect
united arab emirates.
Online Access:https://journals.squ.edu.om/index.php/squmj/article/view/1882

Internet

https://journals.squ.edu.om/index.php/squmj/article/view/1882

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