title: Two novel mutations in the gene that codes for acid α-glucosidase in a baby with Pompe disease.
authors.affiliation: Department of Ultrasound, Shengjing Hospital of China Medical University, 36# of Sanhao St. Heping District, Shenyang 110004, China.
authors.forename: Jinling
authors.initials: J
authors.lastname: Hu
authors.affiliation: Department of Ultrasound, Shengjing Hospital of China Medical University, 36# of Sanhao St. Heping District, Shenyang 110004, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Sun
authors.affiliation: Department of Ultrasound, Shengjing Hospital of China Medical University, 36# of Sanhao St. Heping District, Shenyang 110004, China renwd01@163.com.
authors.forename: Weidong
authors.initials: W
authors.lastname: Ren
authors.affiliation: Department of Ultrasound, Shengjing Hospital of China Medical University, 36# of Sanhao St. Heping District, Shenyang 110004, China.
authors.forename: Min
authors.initials: M
authors.lastname: Xu
mesh_terms: D017809:Fatal Outcome; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D000520:alpha-Glucosidases