Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
磷酸甘露糖异构酶缺乏症:一种以肝肠道表现为特征的碳水化合物缺乏型糖蛋白综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/301873
Jaeken, J; Matthijs, G; Saudubray, J M; Dionisi-Vici, C; Bertini, E; de Lonlay, P; Henri, H; Carchon, H; Schollen, E; Van Schaftingen, E