Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
碳水化合物缺乏性糖蛋白综合征 Ib 型。磷酸甘露糖异构酶缺乏症和甘露糖疗法
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI2350
Niehues, R; Hasilik, M; Alton, G; Körner, C; Schiebe-Sukumar, M; Koch, H G; Zimmer, K P; Wu, R; Harms, E; Reiter, K; von Figura, K; Freeze, H H; Harms, H K; Marquardt, T