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.
Chen
Chih-Ping
CP
Lin
Shuan-Pei
SP
Tzen
Chin-Yuan
CY
Tsai
Fuu-Jen
FJ
Hwu
Wuh-Liang
WL
Wang
Wayseen
W
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*
D001224:Aspartic Acid; D018698:Glutamic Acid; D006003:Glycogen; D000520:alpha-Glucosidases