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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-11-01
Colecção:	Orphanet Journal of Rare Diseases
Assuntos:	Adenylosuccinate synthetase 1 myopathy ADSS1 myopathy Inborn error of metabolism Purine disorder Ultra-rare neuromuscular disease Skeletal muscle
Acesso em linha:	https://doi.org/10.1186/s13023-024-03429-x
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