Publications

Article title
  • All
  • MPS IVA
  • MPS III
  • MPS II
  • MPS VII
  • Fabry
  • Alpha-mannosidosis
  • Batten CLN2
  • All
  • Article
  • Poster
  • Presentation
  • Video
  • Booklet
  • Manuscript
Date
Brineura treatment for CLN2 disease – The Managed Access Agreement GuideBatten CLN2Booklet07/2020
Pathway to diagnosis and burden of illness in MPS VII – a European caregiver surveyMPS VIIManuscript04/2020
Understanding Fabry in Families Study – the availability of pedigree testing, genetic counselling and understanding of inheritance across Fabry International Network countriesFabryPoster02/2020
Audit of a rare disease clinical trial support servicePoster02/2020
Disease progression of Alpha-mannosidosis – A UK natural history survey – manuscriptAlpha-mannosidosisManuscript12/2019
Fabry Findings Issue 2FabryBooklet12/2019
Vimizim treatment for Morquio A – The Managed Access AgreementMPS IVABooklet06/2019
Fabry FindingsFabryBooklet06/2019
Burden of illness in Sanfilippo disease (MPS III) – results from an international caregiver surveyMPS IIPoster02/2019
Patient reported outcomes in MPS IVA patients receiving enzyme replacement therapyMPS IVAPoster02/2019
Understanding Fabry in families: Preliminary findings from a global surveyFabryPoster02/2019
Pathway to diagnosis in Sanfilippo disease (MPS III) – results from an international caregiver surveyMPS IIIPoster02/2019
The challenges of diagnosing patients with an ultra-rare disease – insights from the European MPS VII studyMPS VIIPoster09/2018
Diagnosis and disease burden of MPS VII – a European surveyMPS VIIPoster09/2018
Diagnosis and disease burden of MPS VII – a European surveyMPS VIIPoster08/2018
Patient organisations working in partnership to research the patient experience of rare diseases – the Sanfilippo (MPS III) surveyMPS IIIPoster02/2018
Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio A SyndromeMPS IVAPoster09/2017
The educational journey of individuals with MPS IVA Morquio DiseaseMPS IVAPoster08/2016
Diagnosis and treatment of individuals with MPS II Hunter disease in the UKMPS IIPoster08/2016
The educational journey of individuals with MPS II Hunter Disease in the UKMPS IIPoster08/2016
Multi-stakeholder engagement leading to access to treatment for MPS IVA (Morquio A) – a model for the ultra-rare disease communityMPS IVAPoster07/2016