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Article

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Orphanet journal of rare diseases - 8 Jul 2016

Al-Shamsi Aisha, Hertecant Jozef L, Souid Abdul-Kader, Al-Jasmi Fatma A

Abstract excerpt

BACKGROUND: This study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates. METHODS: From January 2012 to December 2014, 85 patients (46 % females) were seen in the metabolic center at Tawam Hospital (Abu Dhabi) and WES testing was requested because definitive diagnoses were not reached by conventional methods....

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Identifiers

PMID: 27391121
DOI: 10.1186/s13023-016-0474-3
PMCID: PMC4939014

Genes

MCCC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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