檢索結果 - Chet Villa
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Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease... 由 Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, Akihiro Asai
發表在 Molecular Genetics and Metabolism Reports (2024-06-01)獲取全文
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Current state of cardiac troponin testing in Duchenne muscular dystrophy cardiomyopathy: review and recommendations from the Parent Project Muscular Dystrophy expert panel 由 Christopher F Spurney, Lawrence Charnas, Linda Cripe, Kan Hor, Nicholas King, Kathi Kinnett, Elizabeth M McNally, John-Michael Sauer, Lee Sweeney, Chet Villa, Larry W Markham
發表在 Open Heart (2021-02-01)獲取全文
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