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MeSH:(Carbohydrate Metabolism, Inborn Errors/genetics*)

1.Analysis of clinical phenotype and variant of SLC2A1 gene in a Chinese pedigree affected with glucose transporter 1 deficiency syndrome.

Zhen LI ; Changming HAN ; Guowei CHEN ; Hongwei ZHAO

Chinese Journal of Medical Genetics 2022;39(8):884-888

2.Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency.

Zhiyan TAO ; Fang LU

Chinese Journal of Medical Genetics 2021;38(2):170-173

3.Glucose transporter 1 deficiency syndrome: features of movement disorders, diagnosis and treatment.

Xin-Na JI ; Cui-Juan XU ; Zhi-Jie GAO ; Shu-Hua CHEN ; Ke-Ming XU ; Qian CHEN

Chinese Journal of Contemporary Pediatrics 2018;20(3):209-213

4.Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome.

Yan-yan LIU ; Xin-hua BAO ; Shuang WANG ; Na FU ; Xiao-yan LIU ; Fu-ying SONG ; Yan-ling YANG ; Ye WU ; Yue-hua ZHANG ; Jian-xin WU ; Yu-wu JIANG ; Jiong QIN ; Xi-ru WU

Chinese Journal of Pediatrics 2013;51(6):443-447

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