تصفح Biomedical Sciences حسب الموضوع "Computational analysis"
السجلات المعروضة 1 -- 2 من 2
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Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
( 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, ... -
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
( Elsevier , 2020 , Article)Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the or genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA ...