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Evaluation of the clinical, biochemical, genotype and prognosis of <i>mut</i>-type methylmalonic acidemia in 365 Chinese cases.

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作者: Lili,Liang [1] ; Shiying,Ling [1] ; Yue,Yu [1] ; Ruixue,Shuai [2] ; Wenjuan,Qiu [1] ; Huiwen,Zhang [1] ; Linghua,Shen [3] ; Shengnan,Wu [3] ; Haiyan,Wei [3] ; Yongxing,Chen [3] ; Chiju,Yang [4] ; Peng,Xu [4] ; Xigui,Chen [4] ; Hui,Zou [5] ; Jizhen,Feng [6] ; Tingting,Niu [7] ; Haili,Hu [8] ; Zhuwen,Gong [1] ; Ting,Chen [1] ; Xia,Zhan [1] ; Xuefan,Gu [1] ; Lianshu,Han [9]
作者单位: Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China. [1] Department of Pediatrics, Shanghai Changzheng Hospital, Shanghai, China. [2] Center of Neonatal Disease Screening, Henan Children's Hospital, Zhengzhou, Henan, China. [3] Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China. [4] Center of Neonatal Disease Screening, Jinan Maternal and Child Health Care Hospital, Jinan, China. [5] Center of Neonatal Disease Screening, Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, China. [6] Center of Neonatal Disease Screening, Shandong Maternal and Child Health Care Hospital, Jinan, China. [7] Center of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei, China. [8] Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China hanlianshu@xinhuamed.com.cn. [9]
DOI 10.1136/jmg-2022-108682
PMID 37316190
发布时间 2024-12-11
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Journal of medical genetics

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