Heterzygous GLDC variant in a patient with biochemical and clinical findings of nonketotic hyperglycinemia (NKH)

IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Molecular genetics and metabolism Pub Date : 2024-04-01 DOI:10.1016/j.ymgme.2024.108276
Chelsea Zimmerman, Hui Pang, Yazmin Enchautegui-Colon
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一名非酮症性高血糖症(NKH)患者的杂合子 GLDC 变体的生化和临床表现
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来源期刊
Molecular genetics and metabolism
Molecular genetics and metabolism 生物-生化与分子生物学
CiteScore
5.90
自引率
7.90%
发文量
621
审稿时长
34 days
期刊介绍: Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
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