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What is GM2?
What is Tay-Sachs?
What is Sandhoff?
Our work
About us
Our story
Family support
Conferences
Community respite weekend
Spot the Stop
Webinars
ETSCC
Research
Publications
Current trials
Azafaros – PRONTO
IntraBio – IB1001-202
Trial search
Tools
Registry
Clinical toolkit
Educational app
Podcast
Children’s book
New diagnosis packs
News
In the media
News
Contact
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Category:
Publications
Home
Portfolio
ECRD Poster 2024 – Collaboration is key: creating a clinical toolkit for the GM2 gangliosidosis community with, and for, clinicians, patients and caregivers in the United Kingdom
Publications
ECRD Poster 2024 – Mental Health Implications in Lysosomal Storage Diseases: Insights from the UK LSD Collaborative Community Survey
Publications
RARE Revolution Roundtable 2024: Eight Challenges in Developing Rare Disease Therapies
Media
,
Publications
WORLDSymposium Poster 2024 – Sleep disturbance is an important feature of neurological lysosomal disease: For patients and families
Publications
WORLDSymposium Poster 2024 – Empowering the GM2 gangliosidosis community: Developing a single clinical toolkit for clinicians, patients and caregivers in the UK
Publications
National Health Executive 2024 – Tay-Sachs and Sandhoff disease: how clinicians can support patients & families after diagnosis
Media
,
Publications
ISPOR Poster 2023 – Is the Symptomatology of Infantile Tay-Sachs and Infantile Sandhoff Disease Identical? Data from an International Registry
Publications
RARE Revolution Magazine 2023 (Spring Edition)
Media
,
Publications
WORLDSymposium Poster 2023 – Cherry red spot: Evidence that its identification can speed up the diagnosis of GM2 gangliosdosis
Publications