Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases

Lili Liang; Shiying Ling; Yue Yu; Ruixue Shuai; Wenjuan Qiu; Huiwen Zhang; Linghua Shen; Shengnan Wu; Haiyan Wei; Yongxing Chen; Chiju Yang; Peng Xu; Xigui Chen; Hui Zou; Jizhen Feng; Tingting Niu; Haili Hu; Zhuwen Gong; Ting Chen; Xia Zhan; Xuefan Gu; Lianshu Han

doi:10.1136/jmg-2022-108682

Article info

Genotype-phenotype correlations

Original research

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases

Authors

Lili Liang Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Shiying Ling Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Yue Yu Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Ruixue Shuai Department of Pediatrics, Shanghai Changzheng Hospital, Shanghai, China PubMed articles Google scholar articles
Wenjuan Qiu Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Huiwen Zhang Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Linghua Shen Center of Neonatal Disease Screening, Henan Children's Hospital, Zhengzhou, Henan, China PubMed articles Google scholar articles
Shengnan Wu Center of Neonatal Disease Screening, Henan Children's Hospital, Zhengzhou, Henan, China PubMed articles Google scholar articles
Haiyan Wei Center of Neonatal Disease Screening, Henan Children's Hospital, Zhengzhou, Henan, China PubMed articles Google scholar articles
Yongxing Chen Center of Neonatal Disease Screening, Henan Children's Hospital, Zhengzhou, Henan, China PubMed articles Google scholar articles
Chiju Yang Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China PubMed articles Google scholar articles
Peng Xu Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China PubMed articles Google scholar articles
Xigui Chen Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China PubMed articles Google scholar articles
Hui Zou Center of Neonatal Disease Screening, Jinan Maternal and Child Health Care Hospital, Jinan, China PubMed articles Google scholar articles
Jizhen Feng Center of Neonatal Disease Screening, Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, China PubMed articles Google scholar articles
Tingting Niu Center of Neonatal Disease Screening, Shandong Maternal and Child Health Care Hospital, Jinan, China PubMed articles Google scholar articles
Haili Hu Center of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei, China PubMed articles Google scholar articles
Zhuwen Gong Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Ting Chen Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Xia Zhan Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Xuefan Gu Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles
Lianshu Han Department Of Pediatric Endocrinology/Genetics, Shanghai Institute For Pediatric Research, Xinhua Hospital Affiliated To Shanghai Jiao Tong University School Of Medicine, Shanghai, China PubMed articles Google scholar articles

Correspondence to Dr Lianshu Han, Department of Pediatric Endocrinology/Genetics, Shanghai Jiao Tong University, Shanghai, China; hanlianshu{at}xinhuamed.com.cn

View Full Text

Citation

Liang L, Ling S, Yu Y, et al

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases

Journal of Medical Genetics Published Online First: 14 June 2023. doi: 10.1136/jmg-2022-108682

Publication history

Received May 6, 2022
Accepted May 28, 2023
First published June 14, 2023.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Main menu

Authors

Citation

Publication history

Request permissions

Copyright information

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password