تصفح Biomedical Sciences حسب المؤلف "El Abd, Heba S A"
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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 ... -
Novel mutation in an Egyptian patient with infantile Canavan disease.
Zaki, Osama K; El Abd, Heba S; Mohamed, Shaimaa A; Zayed, Hatem ( Springer Verlag (Germany) , 2016 , Article)Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation ... -
Two patients with Canavan disease and structural modeling of a novel mutation.
Zaki, Osama K; Krishnamoorthy, Navaneethakrishnan; El Abd, Heba S; Harche, Soumaya A; Mattar, Reem A; Al Disi, Rana S; Nofal, Mariam Y; El Bekay, Rajaa; Ahmed, Khalid A; George Priya Doss, C; Zayed, Hatem... more authors ... less authors ( Springer US , 2017 , Article)Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis ...