The Biochemical Diagnostic Approaches to Methylmalonic Acidemia for Detection of Organic Acid Disorders in Patients with Inborn Errors of Metabolism

Dina Abd Al-Azim Ghazi Ghoraba;

Abstract


This study highlights the diagnostic approaches to methylmalomic aciduria in Egyptian families with methylmalonic aciduria, including clinical and biochemical investigations and organic acids analyes by gas chromatography-mass spectrometry (GC/MS), liquid


Other data

Title The Biochemical Diagnostic Approaches to Methylmalonic Acidemia for Detection of Organic Acid Disorders in Patients with Inborn Errors of Metabolism
Other Titles استخدام الطرق التشخيصية الحيوية لحمض مثيل المالونيك في الدم للكشف عن اضطرابات الاحماض العضوية في مرضى الخلل الوراثي للتمثيل الغذائي
Authors Dina Abd Al-Azim Ghazi Ghoraba
Keywords The Biochemical Diagnostic Approaches to Methylmalonic Acidemia for Detection of Organic Acid Disorders in Patients with Inborn Errors of Metabolism
Issue Date 2014
Description 
This study highlights the diagnostic approaches to methylmalomic aciduria in Egyptian families with methylmalonic aciduria, including clinical and biochemical investigations and organic acids analyes by gas chromatography-mass spectrometry (GC/MS), liquid

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