Derralyn A. Hughes
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease.
Journal: Orphanet journal of rare diseases
Published: January 12, 2022
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study.
Journal: Molecular genetics and metabolism reports
Published: October 27, 2021
Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 15, 2020
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.
Journal: Orphanet journal of rare diseases
Published: June 21, 2020
Quantitative Myocardial Perfusion in Fabry Disease.
Journal: Circulation. Cardiovascular imaging
Published: July 05, 2019
Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance.
Journal: Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
Published: June 30, 2014
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
Journal: Brain : a journal of neurology
Published: February 28, 2014
Novel pathogenic mutations in the glucocerebrosidase locus.
Journal: Molecular genetics and metabolism
Published: May 09, 2012
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Last Updated: 09/26/2026