Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)

This study reports on the inborn errors of metabolism (IEM) detected by our national newborn screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and 59 residents) were diagnosed during this period. The program was most comprehensive (tested 29 IEM) and universally applied...

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Veröffentlicht in:	JIMD Reports, Volume 28 Volume 28, 2016-01, Vol.28, p.127-135
Hauptverfasser:	Al-Jasmi, Fatma A., Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania M., Souid, Abdul-Kader
Format:	Artikel
Sprache:	eng
Schlagworte:	Biotinidase Deficiency Glutaric Aciduria Type Maple Syrup Urine Disease Medical genetics Metabolism Newborn Screening Paediatric medicine Propionic Acidemia
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