Browsing by Author "Mohammad, Shaimaa A"
Now showing items 1-2 of 2
-
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
Zayed, Hatem; El Khayat, Hamed; Tomoum, Hoda; Khalifa, Ola; Siddiq, Ehab; Mohammad, Shaimaa A; Gamal, Radwa; Shi, Zumin; Mosailhy, Ahmed; Zaki, Osama K... more authors ... less authors ( Springer , 2019 , Article)Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. ... -
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 ...