AGSD-UK

The AGSD-UK provides support and advocacy for individuals and families affected by a Glycogen Storage Disease (GSD).

[Sanofi UK @SanofiUK]

As part of our commitment to support those living with #RareDiseases and #PompeDisease, we're at @AbbeyRoad recording a track inspired by Elgar’s Pomp and Circumstance, alongside @PompeUK, @CarrieGrant1 & @DavidGrantSays.

[Sanofi UK @SanofiUK]

We’re passionate about pioneering new approaches to diagnoses to improve patient outcomes. Some people with rare conditions like #PompeDisease wait 7-9 years to get a diagnosis. Gemma tells us more about her experience 👇

[Sanofi UK @SanofiUK]

This #RareDiseaseDay we are excited to share a teaser from our #PompeAndCircumstance singing project at @AbbeyRoad We are proud to have brought the #PompeDisease community together to explore the benefits of music 🎵 and to help raise awareness. #MoreToCome #WatchThisSpace

[AGSD-UK @AgsdUk]

❄ Winter is here again! ❄

This year join us at AGSDUK as we prepare for our winter season.
Check out the video to find out more! #agsduk #RareDisease #winteriscoming
https://t.co/rEyN58wXC6

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Our 'something borrowed' is:
Misdiagnosis is an important factor for diagnostic delay in #McArdle disease

Renata Siciliani Scalco et al https://t.co/OceLdXwMvs
#GSD #glycogenstoragedisease

[Genetic Alliance UK @GeneticAll_UK]

💉Should Covid-19 vaccines be available for vulnerable children? Watch our community check-in where we were joined by Dr Liz Whittaker, infectious disease lead at RCPCH @RCPCHtweets 👉 https://t.co/DU8a7KkTLX.
#vulnerable #Covid19 #vaccine

[BIMDG @BIMDG]

Public Health England has updated their newborn screening advice documents for all IMD conditions:

https://t.co/VDNCAAnzv9

[AGSD-UK @AgsdUk]

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 @laforainitiativ https://t.co/toCjrhXNQ4

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Finally our 'something blue' is:
Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants
Elena A. Kamenets et al
#GSD #glycogenstoragedisease #GSD0 #IMDpregnancy
https://t.co/IbtMmjL6xE

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Our themed tweets begin (rather belatedly) with 'something old' at 2010:
The use of continuous glucose monitoring in the practical management of glycogen storage disorders
Fiona J. White and Simon A. Jones

https://t.co/2iXvSrpDlh

[AGSD-UK @AgsdUk]

#RareDiseaseDay2021 is here!
Head over to our Facebook page to see our week of rare disease posts, including a special fundraising personal story. #rareisstrong

[AGSD-UK @AgsdUk]

With only a few days untill rare disease day, watch this space for all thinngs Glycogen Storage Disease. Including patient stories and the latest news updates.

We are strong
We are proud
We are AGSD
#RareDiseaseDay #RareDiseases @rarediseaseuk

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Great to work with authors on another #visualabstract

The natural history of glycogen storage disease type Ib in England: A multisite survey

Rebecca Halligan et al

https://t.co/vNtFAh402U

#GSD #glycogenstoragedisorder @NinalaguerreraO

[AGSD-UK @AgsdUk]

@JIMD_Editors This is amazing, may I also post to our Facebook page?

[AGSD-UK @AgsdUk]

@GeneticAll_UK Yes please!

[AGSD-UK @AgsdUk]

APatientInfo and @RareDiseases to host two "Listening Session" conference calls on Glycogen storage disease type I.

Is #GSDI in your family? To be considered, fill out this survey by 2/16: https://t.co/wKavAau5jg  #VonGierke #glycogenstoragedisease

[Rare Disease Day @rarediseaseday]

My rare disease is part of who I am, but It doesn’t define me
💪

🦸Learn more about the first 6 heroes of #RareDiseaseDay!

👉https://t.co/TwfFGPxiHn

💬What defines who you are? Let us know in the comments