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

Orphanet J Rare Dis. 2024 Nov 26;19(1):438. doi: 10.1186/s13023-024-03429-x.
No abstract available

Keywords: ADSS1 myopathy; Adenylosuccinate synthetase 1 myopathy; Biomarkers; Cardiac muscle; Clinical presentation; Consortium; Guidelines; Inborn error of metabolism; Pre-clinical models; Purine disorder; Skeletal muscle; Therapeutics; Ultra-rare neuromuscular disease.