Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.

Norma P Tavakoli,Dorota Gruber,Niki Armstrong,Wendy K Chung,Breanne Maloney,Sunju Park,Julia Wynn,Carrie Koval-Burt,Lorraine Verdade,David H Tegay,Lilian L Cohen, Natasha Shapiro,Annie Kennedy,Garey Noritz,Emma Ciafaloni, Barry Weinberger, Marty Ellington, Charles Schleien, Regina Spinazzola, Sunil Sood,Amy Brower,Michele Lloyd-Puryear,Michele Caggana

Annals of clinical and translational neurology（2023）

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摘要

This study demonstrated that the state NBS program infrastructure and screening technologies we used are feasible to perform NBS for DMD. With an increasing number of treatment options, the clinical utility of early identification for affected newborns and their families lends support for NBS for this severe disease.

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muscular dystrophy,newborn,screening,duchenne

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