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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, ...

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    • C, George Priya Doss (1)
    • El Abd, Heba S A (1) Gamal, Radwa (1) Mohamed, Magdy M (1) ... View More
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      Computational analysis (1) Egypt (1)
    • Genotype-phenotype correlation (1)
    • Glutaric acidemia type I (1) ... View More
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