Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling

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.2024.108219

Olivier Fortin , Kelsey Christoffel , Jason Schroeder , Kate Cilli , Abdullah Shoaib , Charu Venkatesan , Cesar Alves , Rebecca Ganetzky , Jamie Fraser

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丙酮酸脱氢酶复合体缺乏症的胎儿脑磁共振成像特征性异常有助于早期诊断和咨询

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来源期刊

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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