Letter to the editor: SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient

IF 3.7 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM

Molecular genetics and metabolism Pub Date : 2025-04-09 DOI:10.1016/j.ymgme.2025.109106

Ileana Trujillo , Maria E. Aguirre-Flores , Patrick Sarkis , Mayowa A. Osundiji

引用次数: 0

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致编辑的信SSR4-CDG，一种影响TRAP复合体的超罕见X连锁先天性糖基化紊乱：对包括首例成人患者在内的22名受影响个体的回顾

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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.