Underdiagnosis of Fabry disease in minority ethnic groups

Underdiagnosis of Fabry disease in minority ethnic groups

Fabry disease (FD) is a rare, pan ethnic X-linked disorder. We explored ethnic representation in our service and a national patient organisation. An audit of the University Hospitals Birmingham FD cohort revealed that 9 % of index cases are minority ethnic, compared to 18.3 % of the population of En...

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Bibliographic Details
Main Authors: Claudia L. Church Smith, Ashwin Roy, Sarah Steeds, Natalie Tuzcuoglu, Christopher Wingrove, Katherine Aitchison, Claire Radford, Laura A. Boyes, Fiona Stewart, Tarekegn Geberhiwot, Richard P. Steeds
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
Genetic testing
Ethnicity
Health inequalities
Diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000096

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http://www.sciencedirect.com/science/article/pii/S2214426925000096

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