This time in 1 month, we’ll be #hikingforhugo & well on our way up BenNevis for the National 3 Peaks challenge (in 24hrs) to raise money for AGSD-UK. Read our Hugo’s #glycogenstoragedisease story & sponsor if you can (TY!) uk.virginmoneygiving.com/HikingForHugo/1 @DrNathanJSmith Andy Kingsnorth
GSD awareness week
Current groupings of Glycogen Storage Diseases (some have been recategorised as subsets of another GSD as the science advances)
These are under diagnosed as so rare
Contact AGSD-UK for info
#HopeTravels #Pompe
#AGSDUK #GSDAW2020
agsd.org.uk/all-about-gsd/…
Dr Florence Kinnafick AGSD-UK @DrNathanJSmith Andy Kingsnorth Lauren Sherar Great weather for a training hike in the Peaks this past wknd!
What is it like to be the first person in the world to receive an investigational medication? Read Loveah's story here:
today.uconn.edu/2022/06/breaki…
Connecticut Children's #JuanCSalazarMD AGSD-UK #AssociationforGlycogenStorageDisease #Ba1anceclinicaltrial .com #GSD 1A #GSD #mRNA UConn
Very happy to have presented the preliminary results of FORTIS a phase I/II clinical trial with gene therapy in #Pompe disease today at #WORLDSymposia . First results show stabilization of the disease even in patients who stopped ERT after infusion. JWMDRC AEEPompe - Asociación Española de Enfermos Pompe AGSD-UK
#RareDiseaseDay2021 is here!
Head over to our Facebook page to see our week of rare disease posts, including a special fundraising personal story. #rareisstrong
#podcast
Shortcast: Glycogen storage disease type IIIa in pregnant women
Demi Beneru, Michel Tchan and Kate Billmore
Soundcloud: soundcloud.com/user-109006120…
Apple: podcasts.apple.com/sa/podcast/sho…
Spotify: open.spotify.com/episode/0wmB1U…
Glikojen Depo Hastalığı-Glycogen Storage Disease AGSD-UK #GSDIII #GSD3
On International Nurses Day, I would like to thank all our Metabolic patients and families and the teams who help support them BWC NHS Trust NSPKU Eا𝖔n М̶ߎsƙ༝̲ MPS Society UK, here for those with rare diseases AGSD-UK and all my team @catastewart Louise Simmons Kirsty and Rachel
New #openaccess content in #JIMDReports
Glycogen storage disease type 1a in the Ohio Amish
Ethan M. Scott, et al
doi.org/10.1002/jmd2.1…
Glikojen Depo Hastalığı-Glycogen Storage Disease AGSD-UK #GSD1a #glycogenstorage disease
🗻⛰🏔 IT'S ALMOST TIME,
FOR THE CLIMB 🗻⛰🏔
Flo and her friends will be undertaking the three peaks challenge next weekend!
Their total raised for AGSD-UK is already peaking, but can we make it sky high? #3peaks #fundraising
#smallcharity #agsduk
uk.virginmoneygiving.com/fundraiser-dis…
It's #UKCharityweek . A big shout out to the many charities we work with especially NSPKU , Eا𝖔n М̶ߎsƙ༝̲ , #AGSDUK , AKU Society, Matthew's Friends and The Daisy Garland .
Click here to learn more about the tare GSD Lafora and how a family in the UK are raising awareness and funds for treatment! #lafora
#raredisease Lafora Initiative facebook.com/10037003796516…
Great to get a shout out about Project HERCULES initiative at #ISPOREurope from Val Buxton from AGSD-UK.... We must incorporate lived experience voice in evidence generation and decision making #nothingaboutuswithoutus Duchenne UK Phil Powell @ScHARRSheffield @ScHARR_KE
Dr Dwight Koeberl (Duke Clinical and Translational Science Institute)joins the #podcast to discuss gene therapy in Glycogen Storage Disorders.
Spotify: open.spotify.com/episode/5JZoDR…
SoundCloud: soundcloud.com/user-109006120…
Apple: podcasts.apple.com/gb/podcast/jim…
#GSD #genetherapy Glikojen Depo Hastalığı-Glycogen Storage Disease AGSD-UK Sophie’s Hope Foundation - CureGSD1b
Professor Julian Sampson launching the 100,000 Genome Project in Wales. #RareDiseaseDay #welshassembly #agsduk , #geneticalliance .
