Posters
Medical Education Needs to Improve Diagnosis of Fabry Disease in the UK. FABRY | 01/2024
The impact of Fabry symptoms on patients’ quality of life (QoL) and mental health - a qualitative interview study in the UK. FABRY | 02/2024
Barriers to Participation in Clinical Trials. RARE DISEASES |02/2022
Mortality in patients with Alpha-mannosidosis. ALPHA-MANNOSIDOSIS | 03/2022
The importance of early diagnosis and views on newborn screening in Metachromatic Leukodystrophy. MLD | 03/2022
Metachromatic leukodystrophy burden of disease. MLD | 03/2022
Diagnosis of Fabry disease in the UK. FABRY | 03/2022
The impact of COVID-19 on Fabry patients receiving enzyme replacement therapy (ERT). FABRY | 03/2022
Identifying early indicators of mucopolysaccharidosis disorders using UK parent-held child health records. MPS (ALL) | 07/2021
Understanding challenges for ultra-rare lysosomal storage disorders: Patient and caregiver experience of care and support through the disease journey. ULTRA-RARE LYSOSOMAL STORAGE DISORDERS | 03/2021
Maintaining access to clinical trials during the COVID-19 pandemic. RARE DISEASES | 03/2021
Diagnosis of mucopolysaccharidoses in the UK. MPS (ALL) | 03/2021
Understanding Fabry in Families Study – the availability of pedigree testing, genetic counselling and understanding of inheritance across Fabry International Network countries. FABRY | 02/2020
Supporting adults living with mucopolysaccharide (MPS) diseases: Understanding current experiences and future challenges. MPS (ALL) | 02/2020
Prevalence of intestinal disease as terminal even in Mucopolysaccharidosis Type III – A study of 136 deceased patients. MPS III | 02/2020
Audit of a rare disease clinical trial support service. RARE DISEASES | 01/2020
Disease Burden and Unmet Needs: Results from a New Survey in Adult Patients Receiving Enzyme Replacement Therapy for Pompe Disease in the United Kingdom. POMPE DISEASE | 09/2019
Pathway to diagnosis in Sanfilippo disease (MPS III) – results from an international caregiver survey. MPS III | 03/2019
Pathway to diagnosis in Sanfilippo disease (MPS III) – results from an international caregiver survey. MPS III | 03/2019
Understanding Fabry in families: Preliminary findings from a global survey. FABRY | 03/2019
Patient reported outcomes in MPS IVA patients receiving enzyme replacement therapy. MPS IVA | 03/2019
The challenges of diagnosing patients with an ultra-rare disease – insights from the European MPS VII study. MPSVII | 09/2018
Diagnosis and disease burden of MPS VII – a European survey. MPS VII | 09/2018
Patient organisations working in partnership to research the patient experience of rare diseases – the Sanfilippo (MPS III) survey. MPS III | 03/2018
Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio A Syndrome. MPS IVA | 09/2017
The educational journey of individuals with MPS IVA Morquio Disease. MPS IVA | 08/2016
Diagnosis and treatment of individuals with MPS II Hunter disease in the UK. MPS II | 08/2016
The educational journey of individuals with MPS II Hunter Disease in the UK. MPS II | 08/2016
Multi-stakeholder engagement leading to access to treatment for MPS IVA (Morquio A) – a model for the ultra-rare disease community. MPS IVA | 07/2016