Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Methylmalonic Acidemia[original query] |
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| [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2009 Mar 47 (3): 189-93. Wang Fei, Han Lian-shu, Hu Yu-hui, Yang Yan-ling, Ye Jun, Qiu Wen-juan, Zhang Ya-fen, Gao Xiao-lan, Wang Yu, Gu Xue-f |
| [Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2009 Oct 26 (5): 485-9. Wang Fei, Han Lianshu, Ye Jun, Qiu Wenjuan, Zhang Yafen, Gao Xiaolan, Wang Yu, Yang Yanling, Gu Xuef |
| Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. World journal of pediatrics : WJP 2015 Nov 11 (4): 358-65. Han Lian-Shu, Huang Zhuo, Han Feng, Ye Jun, Qiu Wen-Juan, Zhang Hui-Wen, Wang Yu, Gong Zhu-Wen, Gu Xue-F |
| [Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Feb 32 (1): 56-9. Sun Yun, Jiang Tao, Ma Dingyuan, Yang Guijiang, Yang Bing, Wang Yanyun, Xu Zhengfe |
| Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort. Metabolic brain disease 2018 7 33 (5): 1689-1697. Shafaat Mehdi, Alaee Mohammad Reza, Rahmanifar Ali, Setoodeh Aria, Razzaghy-Azar Maryam, Bagherian Hamideh, Bagheri Samira Dabbagh, Zafarghandi Motlagh Fatemeh, Hashemi Mehrdad, Abiri Maryam, Zeinali Siro |
| 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 |
| Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. Balkan journal of medical genetics : BJMG 2019 9 22 (1): 29-34. Tanacan A, Gurbuz B B, Aydin E, Erden M, Coskun T, Beksac M |
| [Clinical analysis of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 7 57 (8): 620-624. Tang X L, Yang H M, Liu H, Xu H, Zhou C J, Li H M, Zhao S Y, Liu J |
| Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations. Frontiers in genetics 2019 2 9 726. Zhou Wei, Li Huizhong, Wang Chuanxia, Wang Xiuli, Gu Maoshe |
| Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations. Molecular biology reports 2019 2 46 (1): 271-285. Keyfi Fatemeh, Abbaszadegan Mohammad R, Sankian Mojtaba, Rolfs Arndt, Orolicki Slobodanka, Pournasrollah Mohammad, Alijanpour Morteza, Varasteh Abdolre |
| Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. Frontiers in genetics 2019 11 10 1052. Wang Ting, Ma Jun, Zhang Qin, Gao Ang, Wang Qi, Li Hong, Xiang Jingjing, Wang Benji |
| A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. Journal of inherited metabolic disease 2019 10 43 (3): 409-423. Kang Lulu, Liu Yupeng, Shen Ming, Liu Yi, He Ruxuan, Song Jinqing, Jin Ying, Li Mengqiu, Zhang Yao, Dong Hui, Liu Xueqin, Yan Hui, Qin Jiong, Zheng Hong, Chen Yongxing, Li Dongxiao, Wei Haiyan, Zhang Huifeng, Sun Liying, Zhu Zhijun, Liang Desheng, Yang Yanli |
| Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia. Scientific reports 2020 7 10 (1): 12509. Zhang Chuan, Wang Xing, Hao Shengju, Zhang Qinghua, Zheng Lei, Zhou Bingbo, Liu Furong, Feng Xuan, Chen Xue, Ma Panpan, Chen Cuixia, Cao Zongfu, Ma |
| Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil. Genetics and molecular biology 2020 7 43 (3): 20190298. Randon Dévora N, Sperb-Ludwig Fernanda, Vianna Fernanda S L, Becker Ana P P, Vargas Carmen R, Sitta Angela, Sant'Ana Alexia N, Schwartz Ida V D, Bitencourt Fernanda H |
| Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis. Molecular genetics & genomic medicine 2020 3 8 (6): e1221. Wang Chao, Liu Yang, Cai Fengying, Zhang Xinjie, Xu Xiaowei, Li Yani, Zou Qianqian, Zheng Jie, Zhang Yuqin, Guo Wei, Cai Chunquan, Shu Jian |
| A rare mutation c.1663G?>?A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients. Orphanet journal of rare diseases 2021 Jan 16 (1): 22. Liang Lili, Shuai Ruixue, Yu Yue, Qiu Wenjuan, Shen Linghua, Wu Shengnan, Wei Haiyan, Chen Yongxing, Yang Chiju, Xu Peng, Chen Xigui, Zou Hui, Feng Jizhen, Niu Tingting, Hu Haili, Ye Jun, Zhang Huiwen, Lu Deyun, Gong Zhuwen, Zhan Xia, Ji Wenjun, Yu Yongguo, Gu Xuefan, Han Lians |
| [Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 694-697. Zhao Ganye, Chen Chen, Zhao Xuechao, Liu Lina, Wang Conghui, Kong Xiangdo |
| [Genetic analysis of 21 cases of methylmalonic acidemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 4 39 (4): 362-365. Wang Xing, Sun Xiaohong, Hao Shengju, Liu Furong, Zhang Qinghua, Zheng Lei, Zhang Chu |
| The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening. Frontiers in genetics 2022 3 13 805599. Ling Shiying, Wu Shengnan, Shuai Ruixue, Yu Yue, Qiu Wenjuan, Wei Haiyan, Yang Chiju, Xu Peng, Zou Hui, Feng Jizhen, Niu Tingting, Hu Haili, Zhang Huiwen, Liang Lili, Lu Deyun, Gong Zhuwen, Zhan Xia, Ji Wenjun, Gu Xuefan, Han Lians |
| [Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 3 39 (3): 269-275. Xu Xilin, He Wenbin, Wang Ying, Gong Fei, Lu Guangxiu, Lin Ge, Tan Yueqiu, Du Ju |
| Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations. Frontiers in genetics 2022 1 12 750719. Lv Weigang, Liang Lili, Chen Xin, Li Zhuo, Liang Desheng, Zhu Huimin, Teng Yanling, Wu Weijuan, Wu Lingqian, Han Lians |
| Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates. Orphanet journal of rare diseases 2022 Feb 17 (1): 66. Huang Xinwen, Wu Dingwen, Zhu Lin, Wang Wenjun, Yang Rulai, Yang Jianbin, He Qunyan, Zhu Bingquan, You Ying, Xiao Rui, Zhao Zhengy |
| Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns. European journal of medical genetics 2023 9 66 (10): 104836. Yu-Yu Li, Jia Xu, Xue-Cheng Sun, Hong-Yu Li, Kai |
| [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 |
| Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A. Prenatal diagnosis 2023 11 43 (12): 1544-1555. Xinyu Fu, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Jingqi Zhu, Huanyun Li, Jun Feng, Weiqin Tang, Di Wu, Xiangdong Ko |
| Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China. Human genomics 2024 7 18 (1): 84. Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Haiyan Wei, Chiju Yang, Peng Xu, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Huiwen Zhang, Lili Liang, Yu Wang, Ting Chen, Feng Xu, Xuefan Gu, Lianshu H |
| Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
- Page last reviewed:Feb 1, 2024
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