Meeting report on the 2nd Clinical and Scientific Conference on ADSS1 myopathy. 24 October 2025, Boston Children’s Hospital, Brookline, Massachusetts, United States of America

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Rybalka, Emma ORCID logoORCID: https://orcid.org/0000-0002-4854-0036, Shieh, Perry B, Jiao, Kexin, Zhu, Wenhua, Saito, Yoshihiko, Koc-Yekeduz, Merve, Upadhyay, Jaymin, Jinnah, Hyder A, Bach, John R, Voorn, Eric, Timpani, Cara ORCID logoORCID: https://orcid.org/0000-0003-4567-4319, Stepchenkova, Elena, Hanna-Rose, Wendy, Yammine, Kathryn M, Moghaszadeh, Behzad, Beggs, Alan H ORCID logoORCID: https://orcid.org/0000-0001-8818-0568, Brault, Jeffrey J, Huang, Shushu, Lek, Monkol, Wan, Linlin, Pandey, Manoj K, Bordi, Matteo, Evesson, Frances J, Baweja, Naveen and Kakkar, Priyanka (2026) Meeting report on the 2nd Clinical and Scientific Conference on ADSS1 myopathy. 24 October 2025, Boston Children’s Hospital, Brookline, Massachusetts, United States of America. Victoria University, Melbourne, Australia. (Submitted)

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Rybalka, E., & Timpani, C. (2026). Meeting report on the 2nd Clinical and Scientific Conference on ADSS1 myopathy. 24 October 2025. Victoria University. https://doi.org/10.26196/WKEF-5K41
Item type Other
URI https://vuir.vu.edu.au/id/eprint/50205
DOI 10.26196/wkef-5k41
Official URL https://doi.org/10.26196/wkef-5k41
Subjects Current > FOR (2020) Classification > 3101 Biochemistry and cell biology
Current > FOR (2020) Classification > 3299 Other biomedical and clinical sciences
Current > Division/Research > Institute for Health and Sport
Keywords Adenylosuccinate synthase 1 myopathy, ADSS1 myopathy, inborn error of metabolism, purine disorder, ultra-rare neuromuscular disease, skeletal muscle, cardiac muscle, clinical presentation, pre-clinical models, therapeutics, biomarkers, consortium, guidelines
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