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The cognitive and mental health support of adults with lysosomal diseases: A review of the neuropsychology service in one tertiary metabolic centreMOLECULAR GENETICS AND METABOLISMIF3.52025-02-010PRE
Single centre experience of starting/ switching to one of two new enzyme replacement therapies in LOPDMOLECULAR GENETICS AND METABOLISMIF3.52025-02-010PRE
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Multiorgan involvement in females with Fabry disease: Results from two phase III trials and the followME registryMOLECULAR GENETICS AND METABOLISMIF3.52024-02-010PRE
Graphene flakes for enhanced delivery of the enzyme to the lysosomes of patient-derived fibroblasts: Bio-persistence and kinetics of substrate degradationMOLECULAR GENETICS AND METABOLISMIF3.52024-02-010PRE
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FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three yearsMOLECULAR GENETICS AND METABOLISMIF3.52024-02-010PRE
Service evaluation of respiratory tract dysfunction in adult Morquio syndrome (MPS IVA): A single tertiary multi-disciplinary centre experienceMOLECULAR GENETICS AND METABOLISMIF3.52024-02-010PRE
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Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label studyORPHANET JOURNAL OF RARE DISEASESIF3.52023-10-2119OAAI
Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry diseaseORPHANET JOURNAL OF RARE DISEASESIF3.52023-10-121OAAI
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