Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China

Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China

Methionine adenosyltransferase deficiency (MATD) is a rare metabolic disorder caused by mono- or biallelic MAT1A mutations that are not yet well understood. Of the 4,065,644 neonates screened between November 2010 and December 2021, 35 individuals have been diagnosed with an estimated incidence of 1...

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Bibliographic Details
Main Authors: Fan Tong, Yuchen Zhang, Chi Chen, Ling Zhu, Yijun Lu, Zhanming Zhang, Ting Chen, Jiaxuan Yan, Jing Zheng, Xiaoxu Zhao, Duo Zhou, Xin Yang, Rulai Yang, Xiaohui Cang, Pingping Jiang, Qiang Shu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
methionine adenosyltransferase deficiency (MATD)
long-term prognosis
MAT1A
neurological deficits
hypermethioninemia
S-adenosylmethionine
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2022.1059680/full

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https://www.frontiersin.org/articles/10.3389/fcell.2022.1059680/full

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