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Updated: Jul 11, 2025

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一种通过尿液新生儿查发现的高lysinemia病例

Mehdi Yeganeh1, Christiane Auray-Blais2, Bruno Maranda2

  • 1Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Centre Hospitalier Universitaire de Québec, Centre Mère-Enfant Soleil Université Laval Québec City Québec Canada.

JIMD reports
|November 6, 2023
PubMed
概括

超lysinemia,一个罕见的 lysine 降解的先天性错误,是一个良性的生化发现. 新生儿查发现了一个病例,证实临床影响有限,不需要干预.

关键词:
氨基酸uria 是一种氨基酸.确定偏差是指确定偏差的情况.lysine lysine lysine lysine 是一种类型的氨酸.新生儿查 新生儿查采样偏差 采样偏差降解疗法是基质的降解疗法.

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