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  1. Current insights in ultra-rare adenylosuccinate synthetase 1 …

    ADSS1 myopathy is an ultra-rare, inherited neuromuscular disease. Features of geographical patient clusters in South Korea, Japan, India and the United States of America were …

  2. 527P Small molecule adenylosuccinic acid supports muscle …

    Oct 1, 2024 · Loss of purine nucleotide cycle function in skeletal muscle due to inherited gene mutation (s) or transcriptional remodelling of adenylosuccinate synthetase isoenzyme 1 …

  3. Adenylosuccinate Synthetase 1 (ADSS1) gene is deleted in lung ...

    May 1, 2008 · ADSS1 is a key enzyme in the de novo synthesis of adenosine monophosphate (AMP), an essential cellular metabolite. An elevated ratio of AMP/ATP activates the cellular …

  4. ADSS1 Gene - GeneCards | PURA1 Protein | PURA1 Antibody

    Nov 13, 2025 · ADSS1 (Adenylosuccinate Synthase 1) is a Protein Coding gene. Diseases associated with ADSS1 include Myopathy, Distal, 5 and Fetal Akinesia Deformation Sequence …

  5. GitHub - old-courses/udem-ADDS-functions: help on how to create ADDS1

    help on how to create ADDS1 ADDS2 and ADDS3 in python. This is just a guide for a function that writes another function. Code for ADDS3 works and returns the correct outputs but there …

  6. Current insights in ultra-rare adenylosuccinate synthetase 1 …

    Nov 26, 2024 · Cure ADSSL1 is the only organisation worldwide exclusively focused on supporting and advancing treatments for ADSS1 myopathy patients. Priyanka Kakkar and …

  7. Adding user from one AD DS to a group in another AD DS

    Apr 11, 2024 · It happens that we are working with two different Active Directory Domain Services (AD DS) and currently we have a separate connector for each one. We’d like to see if we can …

  8. founded the organisation in 2021 after their two children were diagnosed with the disorder.

  9. 527P Small molecule adenylosuccinic acid supports muscle …

    Loss of purine nucleotide cycle function in skeletal muscle due to inherited gene mutation (s) or transcriptional remodelling of adenylosuccinate synthetase isoenzyme 1 (Adds1) expression, …

  10. udem-ADDS-functions/ADDS1.py at master - GitHub

    help on how to create ADDS1 ADDS2 and ADDS3 in python - udem-ADDS-functions/ADDS1.py at master · old-courses/udem-ADDS-functions