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العنوان
The frequency of organic acidemias among Egyptian pediatric patients with suspected inborn errors of metabolism /
الناشر
Sherihan Hassan Hossam Eldin Elkady ,
المؤلف
Sherihan Hassan Hossam Eldin Elkady
هيئة الاعداد
باحث / Sherihan Hassan Hossam El Din El Kady
مشرف / Mona Salem Khalil
مشرف / Laila Abd El Moteleb Selim
مشرف / Elham Mostafa El Sayed
مشرف / Dina Ahmed Mehaney
تاريخ النشر
2019
عدد الصفحات
131 P. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
علم الأحياء الدقيقة (الطبية)
تاريخ الإجازة
25/11/2019
مكان الإجازة
جامعة القاهرة - كلية الطب - Clinical and Chemical Pathology
الفهرس
Only 14 pages are availabe for public view

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Abstract

IEMs are relatively common disorders in the Middle East and Arabic populations, mainly because of the high rates of consanguinity in the region (total consanguinity up to 67% and first cousin consanguinity up to 49% in some Arab populations) (Tadmouri et al., 2009). Depending on the pathogenesis and the metabolic pathway affected, classical IEMS are grossly classified into different groups: amino acidemias, organic acidemias (OAs), and fatty acid oxidation defects. OAs are the most frequently occurring IEMs among the various types of diseases (Wajner et al., 2002). Although clinical presentations of OAs involve multiple body systems, OAs predominately affects the central nervous system. If OA is not treated, patients may develop irreversible brain damage, leading to mental retardation