Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024
NBS effectively identifies affected males but fails to detect females with FD, though it can indirectly facilitate diagnosis of older female relatives.
Authors
- Natalie Owen
- Camille R. Carter
- Rizwan Hamid (ORCID: https://orcid.org/0000-0002-2302-1344)
- Rory J Tinker
- Hanabi Geiger
- Chelsea J. Lauderdale
- Cathy Shyr
- John A. Phillips III
- Yutaka Furuta
- Shayna Jackson
- Neena S. Agrawal
- Lisa A. Bastarache
- Karee A. Morgan
Publication Details
- Journal
- Public Health Genomics
- Published
- 2026-02-17
- DOI
- https://doi.org/10.1159/000551086
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Vanderbilt University
- Vanderbilt University Medical Center