Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion
Keywords: لکوآنسفالوپاتی; 3-MGA-I; 3-methylglutaconic aciduria type I; 3-MG-CoA-H; 3-methylglutaconyl-CoA hydratase; 3-HIVA; 3-hyroxyisovaleric acid; 3-MGA; 3-methylglutaconic acid; 3-MG; 3-methylglutaric acid; IQ; Intelligence Quotient; C5-OH; 3-hydroxyisovaleryl-carnitine; MRI;