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Screening of inborn errors of metabolism among Egyptian pediatric intensive care unit (PICU) patients by tandem mass spectrometry /

Rasha Mohamed Helmy Elkaffas

Screening of inborn errors of metabolism among Egyptian pediatric intensive care unit (PICU) patients by tandem mass spectrometry / مسح أمراض التمثيل الغذائي بين الأطفال بالعناية المركزة باستخدام تحليل الكتلة الطيفى Rasha Mohamed Helmy Elkaffas ; Supervised Dina Farouk Elgayar , Eman Fawzy Halawa , Marwa Mohamed Sheta - Cairo : Rasha Mohamed Helmy Elkaffas , 2010 - 106 P. : charts , facsimiles ; 25cm

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Inborn errors of metabolism (IEM) are not an uncommon entity presenting to the pediatric intensive care unit (PICU). Several of these diseases constitute acute emergencies amenable to life-saving therapy. An earlier recognition of these IEM has the potential to reduce morbidity and mortality rates among children in PICU. Expanded metabolic screening by Tandem Mass Spectometry (MS\MS) using dried blood spot technique proved to be an efficient and rapid method in early detection of these cases



Inborn errors of metabolism Pediatric intensive care unit Tandem mass spectrometry