SLC35A2基因检测可以用于检查先天性糖基化障碍(CDG IIm)。这是一种由佳学基因检测进行检测与分析遗传性疾病,影响糖基化过程,导致多个器官和系统的异常发育和功能障碍。 在进行SLC35A2基因检测时,以下因素缺一不可: 1. 症状:检测通常是在出现相关症状的患者中进行的。这些症状可能包括智力发育迟缓、肌肉松弛、面部...
This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients.doi:10.1016/j.ymgmr.2021.100717Dulce QuelhasJoana CorreiaJaak Jaeken
SLC35A2-CDG patients demonstrated improvements in overall Nijmegen Pediatric CDG Rating Scale (NPCRS) score (P = 0.008), the current clinical assessment (P = 0.007), and the system specific involvement (P = 0.042) domains. Improvements were primarily in growth and development with five patients...
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. J Inherit Metab Dis. 2015;38(5):931-40.Dorre, K. et al. A new case of UDP-galactose transporter deficiency (SLC35A2- CDG): molecular basis, clinical phenotype...