تصفح حسب المؤلف "Mohamed, Magdy M"
-
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
Mosaeilhy, Ahmed; Mohamed, Magdy M; C, George Priya Doss; El Abd, Heba S A; Gamal, Radwa; Zaki, Osama K; Zayed, Hatem... more authors ... less authors ( Springer US , 2017 , Article)Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, ...