Manuscripts
Defining Bayley Scales of Infant and Toddler Development Third Edition (BSITD-III) meaningful change and item relevance in children with neuronopathic MPS II: a caregiver interview-based study. MPS II | JAN 2026
A communication toolkit for the most impactful symptoms of Fabry Disease: co-creation with Fabry disease patients and their treating clinicians in the UK. FABRY | NOV 2025
Medical education gaps in the diagnosis of Fabry disease in the UK: Descriptive findings from a patient survey and specialists’ interviews. FABRY | MAY 2025
Evolution of mobility, pain/discomfort, selfcare, and mental health in patients with alphamannosidosis: an international caregiver and patient survey. ALPHA-MANNOSIDOSIS | MAY 2025
Retrospective Natural History Study of neurodevelopment in neuronopathic Mucopolysaccharidosis Type II. MPS II | NOV 2024
Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals. GAUCHER | AUG 2024
Real‑life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. ASMD | FEB 2024
The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland. MLD | FEB 2024
The importance of early diagnosis and views on newborn screening in metachromatic leukodystophy: results of a Caregiver Survey in the UK and Republic of Ireland. MLD | FEB 2023
Enhancing the value of clinical networks for rare diseases. RARE DISEASES | APR 2022
The importance of psychological support for parents and caregivers of children with a rare disease diagnosis. RARE DISEASES | APR 2022
Mortality in patients with alpha‑mannosidosis: a review of patients’ data and the literature. ALPHA-MANNOSIDOSIS | MAR 2022
Impact of the COVID‑19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment. CLN2 (BATTEN) | JAN 2022
Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreement. MPS IVA SEPT 2021
Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature. MPS III | SEPT 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 | JAN 2021
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome. PTEN HAMARTOMA TUMOUR SYNDROME | APR 2020
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes. LI-FRAUMENI | APR 2020
Pathway to diagnosis and burden of illness in MPS VII – a European caregiver survey. MPS VII | APR 2020
Disease progression of Alpha-mannosidosis – A UK natural history survey – manuscript. ALPHA-MANNOSIDOSIS | DEC 2019
Mortality in patients with Sanfilippo syndrome. MPS III | DEC 2017