Browsing Biomedical Sciences by Author "Gamal, Radwa"
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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. ... -
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, ... -
Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.
Zaki, Osama K; Priya Doss C, George; Ali, Salsabil A; Murad, Ghadeer G; Elashi, Shaima A; Ebnou, Maryam S A; Kumar D, Thirumal; Khalifa, Ola; Gamal, Radwa; El Abd, Heba S A; Nasr, Bilal N; Zayed, Hatem... more authors ... less authors ( Oxford University Press (OUP) , 2017 , Article)Isovaleric acidaemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight ...