FCDGC

#NIH consortium fostering collaborative research among researchers, patients and clinicians, for congenital disorders of glycosylation (#CDG). RT/Like≠endorse

[FCDGC @FrontierCDG]

Late breaking update on current state of the #FCDGC Natural History study and its 280 participants with confirmed CDG, funded by RDRCN @ncats_nih_gov @NIH_NINDS and @NICHD_NIH Read more here: https://t.co/vfjWDRs9Mu

[Rare Diseases Clinical Research Network @rarediseasesnet]

New research from @FrontierCDG:

✅ Evaluating the Use of #RNASequencing to Clarify Variants of Uncertain Significance in a Clinical Setting

Listen and read more: https://t.co/dFs4bbT3OU

[Rare Diseases Clinical Research Network @rarediseasesnet]

Evaluating the Use of #RNASequencing to Clarify Variants of Uncertain Significance in a Clinical Setting

New in @GIMJournal from @FrontierCDG: https://t.co/DiXEgu5NxL

[Rare Diseases Clinical Research Network @rarediseasesnet]

New research from @FrontierCDG:

✅ Exploring the #NaturalHistory of #CongenitalDisordersOfGlycosylation

Listen and subscribe: https://t.co/L76AdlNkLR

[Rare Diseases Clinical Research Network @rarediseasesnet]

Exploring the Natural History of #CongenitalDisordersOfGlycosylation

New in @ELS_Genetics from @FrontierCDG: https://t.co/c7yQJ3GtyI

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

🚨 New podcast Friday 🚨 🎙
Heterozygous DHDDS Variants with Irena Muffels and Eva Morava.

Listen on Apple 👉 https://t.co/iMXZrkPICV

Spotify: https://t.co/wGK6sLWVsk

Soundcloud: https://t.co/bt2TUOmTC6

@PerlaraPBC @CureDhdds @FrontierCDG @worldCDG

[Sylvia Radenkovic @Radenkovic_S]

We urge the clinicians to regularly check coagulation parameters in individuals with PGM1-CDG and to prepare an emergency plan in case of vascular events. Thanks once again to all the co-authors and especially my summer student Sofie Bleukx for her efforts!

[Sylvia Radenkovic @Radenkovic_S]

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

[FCDGC @FrontierCDG]

@eperlste @chrashwood @EvaMorava Wow 🤯

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

New paper drawing on data from @FrontierCDG
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants

I. J. J. Muffels, et al
https://t.co/y2i9wu0CRe
#cdg #dhdds #visualabstract

[Rare Diseases Clinical Research Network @rarediseasesnet]

🎙 New podcast episode!

➡️ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG

Listen and subscribe: https://t.co/QsShuGB0HF

@FrontierCDG

[Rare Diseases Clinical Research Network @rarediseasesnet]

New research from @FrontierCDG:

✅ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG

Listen and read more: https://t.co/qHpp0o3nXe

[Sylvia Radenkovic @Radenkovic_S]

And what a better way to highlight the CDG than to share the latest research published in the special CDG issue of molecular genetics and metabolism! https://t.co/g0Br7g6U9s #cdgawarnessday

[Sylvia Radenkovic @Radenkovic_S]

Though there is still a long road ahead of us, it is clear that a tremendous progress has been made in the last years in the CDG field with the joint effort of patient organizations, patients, clinicians, scientists and caretakers. Go CDG! #cdgawarenessday @FrontierCDG

[Sylvia Radenkovic @Radenkovic_S]

@FrontierCDG @budhraja_rohit @GlycomineBio Good news for FCKS deficiency patients? Starosta et al show clinical and biochemical improvement in a FCKS-CDG patient treated by oral mannose supplementation! https://t.co/CLh8AOUIEx

[Sylvia Radenkovic @Radenkovic_S]

Another guidelines are out also for ALG13-CDG! Led by recently graduated Dr. Shah! https://t.co/nfhBexq2A1 @FrontierCDG

[Sylvia Radenkovic @Radenkovic_S]

@FrontierCDG Out also this month, @budhraja_rohit et al in collaboration with @GlycomineBio show liposome encapsulated man-1-p is able to improve glycosylation in several CDG! https://t.co/mqhPGEyeX9 @FrontierCDG

[Sylvia Radenkovic @Radenkovic_S]

Happy world CDG awareness day! here is to all the patient and their families! You motivate us to do better for CDG patients every day! @worldCDG @FrontierCDG @CDGCAREorg

[Rare Diseases Clinical Research Network @rarediseasesnet]

New research from @FrontierCDG:

✅ Exploring #Proteomics and N-#Glycoproteomics in ALG1-#CongenitalDisorderOfGlycosylation (CDG)
✅ Exploring the #Neurological Characteristics of PMM2-CDG Using Human In Vitro Neural Models

Listen and read more: https://t.co/0IXdSNj5qf

[Rare Diseases Clinical Research Network @rarediseasesnet]

Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG

New research from @FrontierCDG: https://t.co/X1AO5yLfRb