| The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland | MLD | Manuscript | 11/2022 |
Enhancing the value of clinical networks for rare
diseases | Rare Diseases | Manuscript | 04/2022 |
| The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis | Rare Diseases | Manuscript | 04/2022 |
| Mortality in patients with alpha‑mannosidosis: a review of patients’ data and the literature | Alpha-mannosidosis | Manuscript | 02/2022 |
| Mortality in patients with Alpha-mannosidosis | Alpha-mannosidosis | Poster | 02/2022 |
| Metachromatic leukodystrophy burden of disease | MLD | Poster | 02/2022 |
The importance of early diagnosis and views
on newborn screening in Metachromatic
Leukodystrophy | MLD | Poster | 02/2022 |
| Diagnosis of Fabry disease in the UK | Fabry | Poster | 02/2022 |
| The impact of COVID-19 on Fabry patients receiving enzyme replacement therapy (ERT) | Fabry | Poster | 02/2022 |
| Impact of the COVID‑19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment | CLN2 (Batten) | Manuscript | 01/2022 |
| Fabry Findings Issue 5 | Fabry | Article | 10/2021 |
Elosulfase alfa in the treatment
of mucopolysaccharidosis type IVA: insights
from the first managed access agreement | MPS IVA | Manuscript | 09/2021 |
| Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature | MPS III | Manuscript | 09/2021 |
Identifying early indicators of mucopolysaccharidosis disorders using
UK parent-held child health records | MPS (All) | Poster | 07/2021 |
| Expert guidance on Covid-19 for patients | Lysosomal storage diseases | Booklet | 04/2021 |
| Our greatest untapped resource: our patients | Rare Diseases | Article | 04/2021 |
| 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 | Poster | 02/2021 |
| Maintaining access to clinical trials during the COVID-19 pandemic | MPS III | Poster | 02/2021 |
| Understanding challenges for ultra-rare lysosomal storage disorders: Patient and caregiver experience of care and support through the disease journey | Fucosidosis | Poster | 02/2021 |
| Diagnosis of mucopolysaccharidoses in the UK | MPS (All) | Poster | 02/2021 |
Impact of long‑term elosulfase
alfa treatment on clinical
and patient‑reported outcomes in patients
with mucopolysaccharidosis type IVA: results
from a Managed Access Agreement in England | MPS IVA | Manuscript | 01/2021 |
| Focus on Fabry. Fabry treatment update | Fabry | Booklet | 10/2020 |
| Fabry Findings Issue 4 | Fabry | Article | 10/2020 |
| Brineura treatment for CLN2 disease – The Managed Access Agreement Guide | Batten CLN2 | Booklet | 07/2020 |
| Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome | PTEN hamartoma tumour syndrome | Manuscript | 04/2020 |
| Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes | Li-Fraumeni | Manuscript | 04/2020 |
| Pathway to diagnosis and burden of illness in MPS VII – a European caregiver survey | MPS VII | Manuscript | 04/2020 |
| Fabry Findings Issue 3 | Fabry | Article | 03/2020 |
| Understanding Fabry in Families Study – the availability of pedigree testing, genetic counselling and understanding of inheritance across Fabry International Network countries | Fabry | Poster | 02/2020 |
Supporting adults living with
mucopolysaccharide (MPS) diseases:
Understanding current experiences and future challenges | MPS (All) | Poster | 02/2020 |
| Prevalence of intestinal disease as terminal even in Mucopolysaccharidosis Type III – A study of 136 deceased patients | MPS III | Poster | 02/2020 |
| Audit of a rare disease clinical trial support service | | Poster | 02/2020 |
| Disease progression of Alpha-mannosidosis – A UK natural history survey – manuscript | Alpha-mannosidosis | Manuscript | 12/2019 |
| Fabry Findings Issue 2 | Fabry | Article | 12/2019 |
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 | Poster | 09/2019 |
| Defining the MPS Society vision. Findings from our stakeholder survey | Rare Diseases | Report | 07/2019 |
| Vimizim treatment for Morquio A – The Managed Access Agreement | MPS IVA | Booklet | 06/2019 |
| Fabry Findings Issue 1 | Fabry | Article | 06/2019 |
| Clinical trials: Current opportunities in Fabry | Fabry | Report | 03/2019 |
Burden of illness in Sanfilippo disease (MPS III) –
results from an international caregiver survey | MPS III | Poster | 02/2019 |
| Patient reported outcomes in MPS IVA patients receiving enzyme replacement therapy | MPS IVA | Poster | 02/2019 |
| Understanding Fabry in families: Preliminary findings from a global survey | Fabry | Poster | 02/2019 |
| Pathway to diagnosis in Sanfilippo disease (MPS III) – results from an international caregiver survey | MPS III | Poster | 02/2019 |
| Burden of illness in Sanfilippo disease (MPS III) – results from an international caregiver survey | MPS II | Poster | 02/2019 |
| The challenges of diagnosing patients with an ultra-rare disease – insights from the European MPS VII study | MPS VII | Poster | 09/2018 |
| Diagnosis and disease burden of MPS VII – a European survey | MPS VII | Poster | 09/2018 |
| Diagnosis and disease burden of MPS VII – a European survey | MPS VII | Poster | 08/2018 |
| Patient organisations working in partnership to research the patient experience of rare diseases – the Sanfilippo (MPS III) survey | MPS III | Poster | 02/2018 |
| Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio A Syndrome | MPS IVA | Poster | 09/2017 |
| The educational journey of individuals with MPS II Hunter Disease in the UK | MPS II | Poster | 08/2016 |
| Diagnosis and treatment of individuals with MPS II Hunter disease in the UK | MPS II | Poster | 08/2016 |
| The educational journey of individuals with MPS IVA Morquio Disease | MPS IVA | Poster | 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 | Poster | 07/2016 |
