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MeSH:(Sandhoff Disease/genetics*)

1.Clinical characteristics and genetic analysis of a child with infantile Sandhoff disease and eosinophilia.

Haixia ZHU ; Wenlin WU ; Wenxiong CHEN ; Yiru ZENG ; Yuan ZHAO ; Xiuying WANG ; Xiaojing LI

Chinese Journal of Medical Genetics 2022;39(10):1124-1128

2.Analysis of HEXB gene mutations in an infant with Sandhoff disease.

Ruohao WU ; Wenting TANG ; Kunyin QIU ; Yu LI ; Lirong LU ; Dongfang LI

Chinese Journal of Medical Genetics 2019;36(9):930-934

3.HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease.

Tongfei WU ; Xiyuan LI ; Qiao WANG ; Yupeng LIU ; Yuan DING ; Jinqing SONG ; Yao ZHANG ; Yanling YANG

Journal of Zhejiang University. Medical sciences 2013;42(4):403-410

4.Clinical and molecular characteristics of a child with juvenile Sandhoff disease.

Yonglan HUANG ; Ting XIE ; Jipeng ZHENG ; Xiaoyuan ZHAO ; Hongsheng LIU ; Li LIU

Chinese Journal of Pediatrics 2014;52(4):313-316

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