Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine

IF 4 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM

Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI:10.1016/j.ymgme.2026.109921

Jennifer Goldstein , Deeksha Bali , Amanda Balog , Emily Brown Reeves , Didem Demirbas , Raquel Fernandez , Florencia Giliberto , Emily Groopman , Christina Hung , Melanie Lacaria , Rong Mao , Shruthi Mohan , Dawn Peck , Filippo Pinto e Vairo , Laura Pollard , Catherine Rehder , Juliann Savatt , Ryan Schmidt , Pepper St. Clair , Meredith Weaver , Lorne Clarke

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假性缺乏症：在精准医学时代，一个定义不清且被误解的术语

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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.