Author:
WANG Fei,LIANG Lili,LING Shiying,YU Yue,CHEN Ting,XU Feng,GONG Zhuwen,HAN Lianshu
Publisher
China Science Publishing & Media Ltd.
Reference21 articles.
1. YU H C, SLOAN J L, SCHARER G. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1[J]. Am J Hum Genet, 2013, 93: 506-514.
2. CASTRO V L, QUINTANA A M. The role of HCFC1 in syndromic and non-syndromic intellectual disability[J]. Med Res Arch, 2020, 8:
3. 李东晓, 刘玉鹏, 丁 圆, 等. 转录辅助调节因子HCFC1突变致罕见X连锁甲基丙二酸尿症CblX型一家系报告[J]. 临床儿科杂志, 2016, 34(3): 212-216.
4. SHEN Yaping, HU Zhenzhen, YANG Jianbin. 沈亚平, 胡真真, 杨建滨, 等. 串联质谱法检测结果阴性的甲基丙二酸血症合并同型半胱氨酸血症cblX型患儿一例[J]. 浙江大学学报(医学版), 2021, 50(6): 795-798.
5. 韩连书, 叶 军, 邱文娟, 等. 串联质谱联合气相色谱-质谱检测遗传性代谢病[J]. 中华医学杂志, 2008, 88(30): 2122-2126.