title: Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Chin-Yuan
authors.initials: CY
authors.lastname: Tzen
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D001224:Aspartic Acid / Q000235:genetics; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006003:Glycogen / Q000378:metabolism*; D006009:Glycogen Storage Disease Type II / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D009154:Mutation; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D001224:Aspartic Acid; D018698:Glutamic Acid; D006003:Glycogen; D000520:alpha-Glucosidases