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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Hydrocephalus and MMACHC[original query]
Hydrocephalus in cblC type methylmalonic acidemia.
Metabolic brain disease 2018 12 34 (2): 451-458.
Zhang Kaihui, Gao Min, Wang Guangyu, Shi Yingying, Li Xiaoying, Lv Yvqiang, Zhang Guangye, Gai Zhongtao, Liu
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
Orphanet journal of rare diseases 2020 Aug 15 (1): 200.
He Ruxuan, Mo Ruo, Shen Ming, Kang Lulu, Song Jinqing, Liu Yi, Chen Zhehui, Zhang Hongwu, Yao Hongxin, Liu Yupeng, Zhang Yao, Dong Hui, Jin Ying, Li Mengqiu, Qin Jiong, Zheng Hong, Chen Yongxing, Li Dongxiao, Wei Haiyan, Li Xiyuan, Zhang Huifeng, Huang Min, Zhang Chunyan, Jiang Yuwu, Liang Desheng, Tian Yaping, Yang Yanli
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1086-1092.
Chongfen Chen, Yaodong Zhang, Lili Ge, Lei Liu, Xiaoman Zhang, Shiyue Mei, Shuying L
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