The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

Objective: The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present study aimed to investigate the long-term clinical benefits of sc...

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Bibliographic Details
Main Authors: 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, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Genetics
Subjects:
methylmalonic acidemia combined with homocysteinemia
long-term outcome
newborn screening
MMACHC gene
tandem mass spectrometry
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.805599/full

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