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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Underdiagnosis of Fabry disease in minority ethnic groups

Claudia L Church Smith1, Ashwin Roy1,2, Sarah Steeds1

  • 1Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.

Molecular Genetics and Metabolism Reports
|February 3, 2025
PubMed

Keywords:
DiagnosisEthnicityFabry diseaseGenetic testingHealth inequalities

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