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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2024-11-01
Цуврал:	BMC Pediatrics
Нөхцлүүд:	Methionine adenosyltransferase I/III deficiency Newborn screening Methionine MAT1A gene Brain damage
Онлайн хандалт:	https://doi.org/10.1186/s12887-024-05196-x
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!