FCDGC @FrontierCDG
#NIH consortium fostering collaborative research among researchers, patients and clinicians, for congenital disorders of glycosylation (#CDG). RT/Like≠endorse rarediseasesnetwork.org/fcdgc Joined April 2020-
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FCDGC retweeted
New research from @FrontierCDG: ✅ Evaluating the Use of #RNASequencing to Clarify Variants of Uncertain Significance in a Clinical Setting Listen and read more: rarediseasesnetwork.org/news/research-…
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Evaluating the Use of #RNASequencing to Clarify Variants of Uncertain Significance in a Clinical Setting New in @GIMJournal from @FrontierCDG: gimopen.org/article/S2949-…
FCDGC retweeted
New research from @FrontierCDG: ✅ Exploring the #NaturalHistory of #CongenitalDisordersOfGlycosylation Listen and subscribe: rarediseasesnetwork.org/news/research-…
FCDGC retweeted
Exploring the Natural History of #CongenitalDisordersOfGlycosylation New in @ELS_Genetics from @FrontierCDG: sciencedirect.com/science/articl…
FCDGC retweeted
🚨 New podcast Friday 🚨 🎙 Heterozygous DHDDS Variants with Irena Muffels and Eva Morava. Listen on Apple 👉 podcasts.apple.com/gb/podcast/het… Spotify: open.spotify.com/episode/6E32b8… Soundcloud: soundcloud.com/user-109006120… @PerlaraPBC @CureDhdds @FrontierCDG @worldCDG
FCDGC retweeted
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!
FCDGC retweeted
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 shorturl.at/DYNNK @FrontierCDG
FCDGC retweeted
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 doi.org/10.1002/jimd.1… #cdg #dhdds #visualabstract
FCDGC retweeted
🎙 New podcast episode! ➡️ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG Listen and subscribe: spreaker.com/episode/fcdgc-… @FrontierCDG
FCDGC retweeted
New research from @FrontierCDG: ✅ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG Listen and read more: rarediseasesnetwork.org/news/research-…
FCDGC retweeted
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! shorturl.at/floE7 #cdgawarnessday
FCDGC retweeted
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
FCDGC retweeted
@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! sciencedirect.com/science/articl…
FCDGC retweeted
Another guidelines are out also for ALG13-CDG! Led by recently graduated Dr. Shah! sciencedirect.com/science/articl… @FrontierCDG
FCDGC retweeted
@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! sciencedirect.com/science/articl… @FrontierCDG
FCDGC retweeted
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
FCDGC retweeted
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: rarediseasesnetwork.org/news/research-…
FCDGC retweeted
Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG New research from @FrontierCDG: onlinelibrary.wiley.com/doi/10.1002/ji…
FCDGC retweeted
Delighted to announce our recent publication in Proteomics @WileyGlobal on an autosomal recessive disorder, ALG1-Congenital Disorder Glycosylation, led by Rohit Budhraja from our team @budhraja_rohit #glycotime #teammassspec @FrontierCDG
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