Top Tweets for #pgm1
⚠️Don't forget to check for coagulation abnormalities in those patients with phosphoglucomutase-1 congenital disorders of glycosylation (#PGM1-CDG), antithrombin III in particular.
It will improve on D-galactose (D-gal)
Nice news before the weekend! Our article is out in MGM! We show many coagulation parameters are abnormal in PGM1-CDG and that several patients reported major vascular events. Moreover AT could be used as a clinical endpoint for future trials https://t.co/WQ7ujWRcSx @FrontierCDG
We're grateful to the Joint Initiative for Strategic Religious Action for allowing us to be pioneers of this important initiative. As Badili Tana Initiative, we're committed to fostering unity and cooperation within our community.#FoRB #JISRA #PGM1 #InterreligiousHarmony
We’re never that far from a CDG episode and it was great to record one that discusses a combined approach to therapy in PGM1-CDG.
Listen on Apple: https://t.co/Rekfie7Yun
Soundcloud: https://t.co/SJxfiK1MeM
Spotify: https://t.co/T9DeiTPybg
#PGM1 #CDG #podcasting
Finally, our 'something blue'
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
Sarah E. Donoghue, et al
https://t.co/YzGUmOXmDS
#CDG #PGM1
@sarahedonoghue1
New #openaccess content from #JIMDReports
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)
@R_altassan, @EvaMorava et al
https://t.co/B4pCHBcRWE
#CDG #hearttransplant @FrontierCDG @worldCDG
Our 'something new' is:
A New D-Galactose Treatment Monitoring Index for PGM1-CDG
Ester Perales-Clemente, @Radenkovic_S @EvaMorava et al
https://t.co/9aHFC7FvD9
The January issue of #JIMDReports is now online, 14 #openaccess articles freely available for your interest and education.
https://t.co/4mMenIt8f8
#POLG #Ketodiet #CAVA #MADD #CGD #PGM1 #TMAU #inheritedmetabolicdisease @PatrickForny
A new #openaccess JIMD Reports article,
Donoghue et al describe Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
https://t.co/YzGUmOXmDS
#PGM1 #CDG
@EvaMorava
Breaking News: @rarediseasesnet #FCDGC investigators publish new International Consensus Guidelines for diagnosis and management of #PGM1-#CDG in @JIMD_Editors. Read: https://t.co/CfQH1OUJBM
Using tracer-based metabolomics to elucidate the molecular mechanism, @Radenkovic_S and @emoravakozicz recently showed D-Galactose replenishes nucleotide sugar pools in #PGM1-#CDG. Published in @AJHGNews #glycotime read: https://t.co/a8QeAEoZTR
Regarding #CDGAwareness 💚, #PGM1-#CDG is another treatable disorder. First known as a glycogen storage disorder, in 2014 several investigators who are now part of the #FCDGC consortium (@emoravakozicz, @FreezeHud, etc) described it as a CDG in @NEJM read: https://t.co/pY6Qjbu0RC
On our way to Pasteur institute in Paris, talking about our latest technologies and results #busyschedule #PGM1 #Paris @vib_mec_core
Repte superat @lasallebcn Més de 300 estudiants d'Enginyeria fent la prova final d'avaluació per ordinador. Gran equip de #pgm1 (#NCAcampus #NCAcat) https://t.co/chUNMiksj5
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