Browsing by Author "Nasr, Bilal N"
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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 ...