Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – Meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

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Rybalka, Emma ORCID: 0000-0002-4854-0036, Park, Hyung Jun, Nalini, Atchayaram, Baskar, Dipti, Polavarapu, Kiran ORCID: 0000-0002-8879-6001, Durmus, Hacer, Xia, Yang, Wan, Linlin, Shieh, Perry B, Moghadaszadeh, Behzad ORCID: 0000-0001-9787-0106, Beggs, Alan H ORCID: 0000-0001-8818-0568, Mack, David L, Smith, Alec ST, Hanna-Rose, Wendy, Jinnah, Hyder, Timpani, Cara A, Shen, Min, Upadhyay, Jaymin, Brault, Jeffrey J, Hall, Matthew D, Baweja, Naveen and Kakkar, Priyanka (2024) Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – Meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. (Submitted)

Item type Article
URI https://vuir.vu.edu.au/id/eprint/48582
Subjects Current > FOR (2020) Classification > 3101 Biochemistry and cell biology
Current > Division/Research > College of Health and Biomedicine
Keywords adenylosuccinate synthetase 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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