Article title
  • All
  • MPS II
  • Fabry
  • Alpha-mannosidosis
  • Batten CLN2
  • MPS (All)
  • Fucosidosis
  • GM I Gangliosidosis
  • LAL-D
  • ML II
  • MSD
  • MLD
  • CLN2 (Batten)
  • All
  • Article
  • Poster
  • Presentation
  • Video
  • Booklet
  • Manuscript
Mortality in patients with Alpha-mannosidosisAlpha-mannosidosisPoster02/2022
The importance of early diagnosis and views
on newborn screening in Metachromatic
Metachromatic leukodystrophy burden of diseaseMLDPoster02/2022
Diagnosis of Fabry disease in the UKFabryPoster02/2022
The impact of COVID-19 on Fabry patients receiving enzyme replacement therapy (ERT)FabryPoster02/2022
Impact of the COVID‑19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatmentCLN2 (Batten)Manuscript01/2022
Fabry Findings Issue 5FabryArticle10/2021
Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the LiteratureMPS IIIManuscript09/2021
Maintaining access to clinical trials during the COVID-19 pandemicMPS IIIPoster02/2021
Diagnosis of mucopolysaccharidoses in the UKMPS (All)Poster02/2021
Understanding challenges for ultra-rare lysosomal storage disorders: Patient and caregiver experience of care and support through the disease journeyFucosidosisPoster02/2021
Fabry Findings Issue 4FabryBooklet10/2020
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
Fabry Findings Issue 3FabryBooklet03/2020
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
Fabry Findings Issue 1FabryBooklet06/2019
Vimizim treatment for Morquio A – The Managed Access AgreementMPS IVABooklet06/2019
Pathway to diagnosis in Sanfilippo disease (MPS III) – results from an international caregiver surveyMPS IIIPoster02/2019
Understanding Fabry in families: Preliminary findings from a global surveyFabryPoster02/2019
Patient reported outcomes in MPS IVA patients receiving enzyme replacement therapyMPS IVAPoster02/2019
Burden of illness in Sanfilippo disease (MPS III) – results from an international caregiver surveyMPS IIPoster02/2019
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
The educational journey of individuals with MPS II Hunter Disease in the UKMPS IIPoster08/2016
Diagnosis and treatment 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