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Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology
It has been an honour and a privilege to work with this exception group of experts from around the world in bringing this long-awaited project to publication. Following on from the CLN2 guidelines we published in 2021, these CLN3 diagnosis and management recommendations will hopefully bring greater awareness of the condition, faster diagnosis, and cohesive multidisciplinary care across specialities. I would like to thank the funding team and all the authors for their passion,
heathermason
Mar 111 min read
World Down Syndrome Awareness Day
Today is Down Syndrome (DS) Awareness Day. The 21st of the 3rd month symbolises three copies of chromosome 21. I can't sugarcoat this...
heathermason
Mar 21, 20252 min read
EMWA Spring conference is nearly upon us.
The European Medical Writers Association (EMWA) 2024 Spring conference is almost upon us. Raquel Billiones and I will be moderating the...
heathermason
Apr 3, 20241 min read
World Down Syndrome Awareness Day.
This is more of a personal post than a professional one, but it is World Down Syndrome Day, and in the spirit of my professional...
heathermason
Mar 21, 20241 min read
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