Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024

<p>Introduction: Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A (aGAL) deficiency. Newborn screening (NBS) programs for FD have been implemented in several US states; however, its effectiveness in identifying affected females remains uncertain....

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Autors principals:	Yutaka Furuta, Neena S. Agrawal, Natalie N. Owen, Lisa A. Bastarache, Cathy Shyr, Hanabi U. Geiger, Shayna Jackson, Chelsea J. Lauderdale, Camille R. Carter, Karee A. Morgan, Rizwan Hamid, John A. Phillips III, Rory J. Tinker
Format:	Artigo
Idioma:	Inglês
Publicat:	Karger Publishers 2026-01-01
Col·lecció:	Public Health Genomics
Accés en línia:	https://karger.com/article/doi/10.1159/000551086
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