FCDGC
@FrontierCDG
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#NIH consortium fostering collaborative research among researchers, patients and clinicians, for congenital disorders of glycosylation (#CDG). RT/Like≠endorse
Joined April 2020
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:
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RT @rarediseasesnet: New research from @FrontierCDG:. ✅ Evaluating the Use of #RNASequencing to Clarify Variants of Uncertain Significance….
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RT @rarediseasesnet: Evaluating the Use of #RNASequencing to Clarify Variants of Uncertain Significance in a Clinical Setting. New in @GIMJ….
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RT @rarediseasesnet: New research from @FrontierCDG:. ✅ Exploring the #NaturalHistory of #CongenitalDisordersOfGlycosylation. Listen and su….
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RT @rarediseasesnet: Exploring the Natural History of #CongenitalDisordersOfGlycosylation. New in @ELS_Genetics from @FrontierCDG: https://….
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RT @JIMD_Editors: 🚨 New podcast Friday 🚨 🎙 .Heterozygous DHDDS Variants with Irena Muffels and Eva Morava. Listen on Apple 👉 https://t.co/….
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RT @Radenkovic_S: We urge the clinicians to regularly check coagulation parameters in individuals with PGM1-CDG and to prepare an emergency….
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RT @Radenkovic_S: Nice news before the weekend! Our article is out in MGM! We show many coagulation parameters are abnormal in PGM1-CDG and….
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RT @JIMD_Editors: New paper drawing on data from @FrontierCDG .Assessing age of onset and clinical symptoms over time in patients with hete….
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RT @rarediseasesnet: 🎙 New podcast episode!. ➡️ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG. Listen and subscribe….
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RT @rarediseasesnet: New research from @FrontierCDG:. ✅ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG. Listen and r….
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RT @Radenkovic_S: And what a better way to highlight the CDG than to share the latest research published in the special CDG issue of molecu….
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RT @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….
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RT @Radenkovic_S: @FrontierCDG @budhraja_rohit @GlycomineBio Good news for FCKS deficiency patients? Starosta et al show clinical and bioch….
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RT @Radenkovic_S: Another guidelines are out also for ALG13-CDG! Led by recently graduated Dr. Shah! @FrontierCDG.
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RT @Radenkovic_S: @FrontierCDG Out also this month, @budhraja_rohit et al in collaboration with @GlycomineBio show liposome encapsulated ma….
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RT @Radenkovic_S: Happy world CDG awareness day! here is to all the patient and their families! You motivate us to do better for CDG patien….
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RT @rarediseasesnet: New research from @FrontierCDG:. ✅ Exploring #Proteomics and N-#Glycoproteomics in ALG1-#CongenitalDisorderOfGlycosyla….
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RT @rarediseasesnet: Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG. New research from @FrontierCDG: .
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RT @Lab_Pandey: Delighted to announce our recent publication in Proteomics @WileyGlobal on an autosomal recessive disorder, ALG1-Congenital….
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