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 DOI Creative Commons
Emma Rybalka, Hyung Jun Park, Atchayaram Nalini

и другие.

Orphanet Journal of Rare Diseases, Год журнала: 2024, Номер 19(1)

Опубликована: Ноя. 26, 2024

The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held June 3, 2024, at the National Institutes of Health (NIH) Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 is an ultra-rare, inherited neuromuscular disease. Features geographical patient clusters South Korea, Japan, India United States America were characterised discussed. Pre-clinical animal cell-based models discussed, providing unique insight into disease pathogenesis. biochemical pathogenesis potential therapeutic targets identified. Potential clinical pre-clinical biomarkers An consortium established a roadmap development created.

Язык: Английский

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 DOI Creative Commons
Emma Rybalka, Hyung Jun Park, Atchayaram Nalini

и другие.

Orphanet Journal of Rare Diseases, Год журнала: 2024, Номер 19(1)

Опубликована: Ноя. 26, 2024

The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held June 3, 2024, at the National Institutes of Health (NIH) Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 is an ultra-rare, inherited neuromuscular disease. Features geographical patient clusters South Korea, Japan, India United States America were characterised discussed. Pre-clinical animal cell-based models discussed, providing unique insight into disease pathogenesis. biochemical pathogenesis potential therapeutic targets identified. Potential clinical pre-clinical biomarkers An consortium established a roadmap development created.

Язык: Английский

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