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

doi:10.1186/s13023-016-0510-3

Article

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

Orphanet journal of rare diseases - 15 Sept 2016

Alfadhel Majid, Benmeakel Mohammed, Hossain Mohammad Arif, Al Mutairi Fuad, Al Othaim Ali, Alfares Ahmed A, Al Balwi Mohammed, Alzaben Abdullah, Eyaid Wafaa

Abstract excerpt

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 biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

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

Abstract excerpt

Topics

Related research