Childhood Pompe disease: clinical spectrum and genotype in 31 patients
儿童庞贝病:31例患者的临床表现和基因型
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-016-0442-y
van Capelle, C I; van der Meijden, J C; van den Hout, J M P; Jaeken, J; Baethmann, M; Voit, T; Kroos, M A; Derks, T G J; Rubio-Gozalbo, M E; Willemsen, M A; Lachmann, R H; Mengel, E; Michelakakis, H; de Jongste, J C; Reuser, A J J; van der Ploeg, A T