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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Asıl Yazarlar: Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania, Souid, Abdul-Kader, Al-Jasmi, Fatma
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2014
Konular:
Clinical & Basic Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3916276/
https://ncbi.nlm.nih.gov/pubmed/24516753
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