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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying...

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Detalles Bibliográficos
Autores principales: Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024448/
https://www.ncbi.nlm.nih.gov/pubmed/27629047
http://dx.doi.org/10.1186/s13023-016-0510-3