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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

Highlights The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held on June 3, 2024, at the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 myopathy is an ultra-rare...

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Main Authors: Emma Rybalka, Hyung Jun Park, Atchayaram Nalini, Dipti Baskar, Kiran Polavarapu, Hacer Durmus, Yang Xia, Linlin Wan, Perry B. Shieh, Behzad Moghadaszadeh, Alan H. Beggs, David L. Mack, Alec S. T. Smith, Wendy Hanna-Rose, Hyder A. Jinnah, Cara A. Timpani, Min Shen, Jaymin Upadhyay, Jeffrey J. Brault, Matthew D. Hall, Naveen Baweja, Priyanka Kakkar
Format: Artigo
Language:Inglês
Published: BMC 2024-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Adenylosuccinate synthetase 1 myopathy
ADSS1 myopathy
Inborn error of metabolism
Purine disorder
Ultra-rare neuromuscular disease
Skeletal muscle
Online Access:https://doi.org/10.1186/s13023-024-03429-x
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