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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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Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2024-11-01
Colecção:BMC Pediatrics
Assuntos:
Methionine adenosyltransferase I/III deficiency
Newborn screening
Methionine
MAT1A gene
Brain damage
Acesso em linha:https://doi.org/10.1186/s12887-024-05196-x
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