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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Detalles Bibliográficos
Autores principales: Tong, Fan, Zhang, Yuchen, Chen, Chi, Zhu, Ling, Lu, Yijun, Zhang, Zhanming, Chen, Ting, Yan, Jiaxuan, Zheng, Jing, Zhao, Xiaoxu, Zhou, Duo, Yang, Xin, Yang, Rulai, Cang, Xiaohui, Jiang, Pingping, Shu, Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871361/
https://www.ncbi.nlm.nih.gov/pubmed/36704196
http://dx.doi.org/10.3389/fcell.2022.1059680

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