Biochemical Assay to Aid in the Diagnosis of SORD Deficiency (P7-2.012)
To review performance data on a clinically available biochemical assay designed to aid in the diagnosis of SORD deficiency-related peripheral neuropathy.
Authors
- William Laxen (ORCID: https://orcid.org/0000-0002-7821-3511)
- Dimitar Gavrilov (ORCID: https://orcid.org/0000-0002-8871-2808)
- Devin Oglesbee (ORCID: https://orcid.org/0000-0002-7147-5527)
- Dietrich Matern (ORCID: https://orcid.org/0000-0001-6298-4138)
- Silvia Tortorelli (ORCID: https://orcid.org/0000-0001-8056-9544)
- Amy White (ORCID: https://orcid.org/0000-0001-8226-615X)
- Matthew Schultz (ORCID: https://orcid.org/0000-0003-4111-7590)
- Patricia Hall (ORCID: https://orcid.org/0000-0001-9218-6233)
Institutions
- Mayo Clinic in Arizona (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211976
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 0.00