先天性糖基化障碍：一种具有多种亚细胞定位的多基因疾病家族。
Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations.
机构信息
Department of Development and Regeneration, Center for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
出版信息
J Mother Child. 2020 Nov 10;24(2):14-20. doi: 10.34763/jmotherandchild.20202402si.2005.000004.
Abstract
This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment.
摘要
本篇综述讨论了一系列具有特殊特征的先天性糖基化紊乱，如不典型的表现、不同的表型、新颖的生化/遗传机制、相对较高的频率或相对有效的治疗方法。
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