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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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Photo by FCDGC (@FrontierCDG)Photo by FCDGC (@FrontierCDG)Photo by FCDGC (@FrontierCDG)Photo by FCDGC (@FrontierCDG)Photo by 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: authors.elsevier.com/c/1jMLi…
Image from FCDGC (@FrontierCDG)
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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…
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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/S2949-77…
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing

Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing

Sequencing-based genetic testing often identifies variants of uncertain significance (VUS) or fails to detect pathogenic variants altogether. We evaluated the utility of RNA sequencing (RNA-seq) to...

gimopen.org
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New research from @FrontierCDG: ✅ Exploring the #NaturalHistory of #CongenitalDisordersOfGlycosylation Listen and subscribe: rarediseasesnetwork.org/news…
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Exploring the Natural History of #CongenitalDisordersOfGlycosylation New in @ELS_Genetics from @FrontierCDG: sciencedirect.com/science/ar…
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🚨 New podcast Friday 🚨 🎙 Heterozygous DHDDS Variants with Irena Muffels and Eva Morava. Listen on Apple 👉 podcasts.apple.com/gb/podcas… Spotify: open.spotify.com/episode/6E3… Soundcloud: soundcloud.com/user-10900612… @PerlaraPBC @CureDhdds @FrontierCDG @worldCDG
Image from The Journal of Inherited Metabolic Disease (@JIMD_Editors)
Image from The Journal of Inherited Metabolic Disease (@JIMD_Editors)
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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!
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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
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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.12769 #cdg #dhdds #visualabstract
Image from The Journal of Inherited Metabolic Disease (@JIMD_Editors)
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🎙 New podcast episode! ➡️ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG Listen and subscribe: spreaker.com/episode/fcdgc-i… @FrontierCDG
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New research from @FrontierCDG: ✅ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG Listen and read more: rarediseasesnetwork.org/news…
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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
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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
Image from Sylvia Radenkovic (@Radenkovic_S)
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Replying to @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! sciencedirect.com/science/ar…
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Another guidelines are out also for ALG13-CDG! Led by recently graduated Dr. Shah! sciencedirect.com/science/ar… @FrontierCDG
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Replying to @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! sciencedirect.com/science/ar… @FrontierCDG
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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
Image from Sylvia Radenkovic (@Radenkovic_S)
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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…
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Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG New research from @FrontierCDG: onlinelibrary.wiley.com/doi/…
Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG

Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG

ALG3-CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurological manifestations, transaminitis, and frequent infections. The ALG3 enzyme catalyzes...

onlinelibrary.wiley.com
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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
Image from Akhilesh Pandey Lab (@Lab_Pandey)
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