Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1 2016 (en Chino)
Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1 WANG Qiao, YANG Yan-Ling. Department of Pediatrics, Peking University First Hospital, Beijing 100034, China (Email: organic.acid@126.com) Abstract: Glutaric aciduria type 1 is a rare autosomal recessive disorder. GCDH gene mutations cause glutarylCoA dehydrogenase deficiency and...