P797: METABOLIC PROFILING IN ERCC6L2 AND SHWACHMAN DIAMOND SYNDROME
P797：ERCC6L2 和施瓦赫曼-戴蒙德综合征的代谢谱分析
期刊:Neuromuscular Disorders
影响因子:2.8
doi:10.1016/j.nmd.2018.04.012
Strang-Karlsson, Sonja; Johnson, Katherine; Töpf, Ana; Xu, Liwen; Lek, Monkol; MacArthur, Daniel G; Casar-Borota, Olivera; Williams, Maria; Straub, Volker; Wallgren-Pettersson, Carina; Nadeu, F; Shuai, S; Clot, G; Hilton, L K; Diaz-Navarro, A; Martín, S; Royo, R; Baumann, T; Kulis, M; López-Oreja, I; Cossio, M; Lu, J; Ljungström, V; Young, E; Plevova, K; Knisbacher, B A; Lin, Z; Hahn, C K; Bousquets, P; Alcoceba, M; González, M; Colado, E; Aymerich, M; Terol, M J; Rivas-Delgado, A; Enjuanes, A; Ruiz-Gaspà, S; Chatzikonstantinou, T; Hägerstrand, D; Jylhä, C; Skaftason, A; Mansouri, L; Stranska, K; Doubek, M; van Gastel-Mol, E J; Davis, Z; Walewska, R; Scarfò, L; Trentin, L; Visentin, A; Parikh, S A; Rabe, K G; Moia, R; Armand, M; Rossi, D; Davi, F; Gaidano, G; Kay, N E; Shanafelt, T; Ghia, P; Oscier, D; Langerak, A W; Beà, S; López-Guillermo, A; Neuberg, D; Wu, C J; Getz, G; Pospisilova, S; Stamatopoulos, K; Rosenquist, R; Huber, W; Zenz, T; Colomer, D; Martín-Subero, J I; Delgado, J; Morin, R D; Stein, L D; Puente, X S; Campo, E; Puła, A; Robak, P; Jarych, D; Mikulski, D; Dróżdż, I; Szemraj, J; Robak, T; Kaaja, I; Douglas, S P; Räisänen, T H; Haimilahti, K; Nieminen, A I; Pirinen, E; Wartiovaara-Kautto, U; Kilpivaara, O
