Double Trouble: Adenylosuccinate Lyase Deficiency-a Study in Phenotypic Variation (P2-6.014)
To present two phenotypically distinct cases of adenylosuccinate lyase (ADSL) deficiency sharing the same genetic mutation, highlighting diagnostic and therapeutic challenges.
Authors
- Jennifer McVige (ORCID: https://orcid.org/0000-0002-0018-1644)
- Thomas Varkey (ORCID: https://orcid.org/0000-0002-3586-2909)
- Akash Rawat (ORCID: https://orcid.org/0000-0003-2612-619X)
- Aishwarya Koppanatham (ORCID: https://orcid.org/0009-0000-5737-4474)
- Apoorva Vedula
Institutions
- Banner Health (US)
- Himalayan Institute of Yoga Science and Philosophy (US)
- Dent Neurologic Institute (US)
- Osmania Medical College (IN)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211750
- Primary Topic
- Biochemical and Molecular Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00