Browsing College of Health Sciences by Author "Hassan, Magdy M."
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Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
Moseilhy, Ahmed; Hassan, Magdy M.; El Abd, Heba S. A.; Mohammad, Shaimaa A.; El Bekay, Rajaa; Abdel-Motal, Ussama M.; Ouhtit, Allal; Zaki, Osama K.; Zayed, Hatem... more authors ... less authors ( Springer US , 2016 , Article)Abstract To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation( s) that may be responsible for the disease phenotype. MRI was performed on the patient using the ...