Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage

Abstract Background and objectives Methionine adenosyltransferase I/III deficiency used to be considered a relatively benign disease. This study aims to elucidate the clinical characteristics of methionine adenosyltransferase I/III deficiency patients with neurological manifestations. Methods The cl...

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Auteurs principaux:	Xue Ma, Mei Lu, Zhehui Chen, Huiting Zhang, Jinqing Song, Hui Dong, Ying Jin, Mengqiu Li, Ruxuan He, Lulu Kang, Yi Liu, Yongxing Chen, Zhijun Zhu, Liying Sun, Yao Zhang, Yanling Yang
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2024-11-01
Collection:	BMC Pediatrics
Sujets:	Methionine adenosyltransferase I/III deficiency Newborn screening Methionine MAT1A gene Brain damage
Accès en ligne:	https://doi.org/10.1186/s12887-024-05196-x
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