GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
庞贝病患者中GAA变异和表型:来自庞贝病登记处的数据
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23878
Reuser, Arnold J J; van der Ploeg, Ans T; Chien, Yin-Hsiu; Llerena, Juan Jr; Abbott, Mary-Alice; Clemens, Paula R; Kimonis, Virginia E; Leslie, Nancy; Maruti, Sonia S; Sanson, Bernd-Jan; Araujo, Roberto; Periquet, Magali; Toscano, Antonio; Kishnani, Priya S; On Behalf Of The Pompe Registry Sites