Manuscripts
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Patients’ lived experience of thymidine kinase 2 deficiency: the online survey-based assessment of TK2d patient perspectives study
TK2d | JUL 2026
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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
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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
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Medical education gaps in the diagnosis of Fabry disease in the UK: Descriptive findings from a patient survey and specialists’ interviews
FABRY | MAY 2025
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Evolution of mobility, pain/discomfort, selfcare, and mental health in patients with alphamannosidosis: an international caregiver and patient survey
ALPHA-MANNOSIDOSIS | MAY 2025
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Retrospective Natural History Study of neurodevelopment in neuronopathic Mucopolysaccharidosis Type II
MPS II | NOV 2024
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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
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Real‑life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
ASMD | FEB 2024
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The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland
MLD | FEB 2024
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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
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Enhancing the value of clinical networks for rare diseases
RARE DISEASES | APR 2022
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The importance of psychological support for parents and caregivers of children with a rare disease diagnosis
RARE DISEASES | APR 2022
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Mortality in patients with alpha‑mannosidosis: a review of patients’ data and the literature
ALPHA-MANNOSIDOSIS | MAR 2022
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Impact of the COVID‑19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment
CLN2 (BATTEN) | JAN 2022
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Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreement
MPS IVA | SEPT 2021
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Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature
MPS III | SEPT 2021
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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
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Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
PTEN HAMARTOMA TUMOUR SYNDROME | APR 2020
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Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
LI-FRAUMENI | APR 2020
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Pathway to diagnosis and burden of illness in MPS VII – a European caregiver survey
MPS VII | APR 2020
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Disease progression of Alpha-mannosidosis – A UK natural history survey
ALPHA-MANNOSIDOSIS | DEC 2019
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Mortality in patients with Sanfilippo syndrome
MPS III | DEC 2017