Derralynn A. Hughes

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 185 publications

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Journal: Orphanet journal of rare diseases

Published: April 02, 2026

Cardiovascular Morbidity and Mortality in Fabry Disease.

Cardiovascular Morbidity and Mortality in Fabry Disease.

Journal: Circulation. Genomic and precision medicine

Published: February 06, 2026

Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review.

Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review.

Journal: Orphanet journal of rare diseases

Published: January 21, 2026

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Journal: Journal of clinical medicine

Published: January 19, 2026

Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study.

Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study.

Journal: Orphanet journal of rare diseases

Published: November 12, 2025

Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapy.

Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapy.

Journal: Frontiers in molecular biosciences

Published: October 16, 2025

Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence.

Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence.

Journal: Genes

Published: September 05, 2025

Reappraising cardiac function with myocardial contraction fraction: normal values, disease detection, and prognostication.

Reappraising cardiac function with myocardial contraction fraction: normal values, disease detection, and prognostication.

Journal: European heart journal. Cardiovascular Imaging

Published: July 06, 2025

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey.

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey.

Journal: European journal of clinical investigation

Published: June 26, 2025

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort.

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort.

Journal: European journal of neurology

Published: June 05, 2025

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.

Journal: Journal of clinical medicine

Published: May 23, 2025

Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.

Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.

Journal: NPJ genomic medicine

Published: April 09, 2025

Showing 1-12 of 185

Last Updated: 09/26/2026