A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
先天性糖基化障碍 I 的广泛临床表现:26 例病例系列研究
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.38.1.14
de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, B M; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, J M; Cormier-Daire, V