Exploring the #Neurological Characteristics of #PMM2CDG (#CongenitalDisorderOfGlycosylation) Using Human In Vitro Neural Models New in Cell Reports from FCDGC: cell.com/cell-reports/f…

Highlight reel from our recent scientific and family conference youtu.be/DqRKJL9sZuM?si…

Delighted to announce our recent publication in Proteomics Wiley on an autosomal recessive disorder, ALG1-Congenital Disorder Glycosylation, led by Rohit Budhraja from our team Rohit budhraja #glycotime #teammassspec FCDGC

Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG New research from FCDGC: onlinelibrary.wiley.com/doi/10.1002/ji…

New research from FCDGC: ✅ 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-…

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! World CDG Organization FCDGC CDG CARE

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

Another guidelines are out also for ALG13-CDG! Led by recently graduated Dr. Shah! sciencedirect.com/science/articl… FCDGC

FCDGC Out also this month, Rohit budhraja et al in collaboration with Glycomine Bio show liposome encapsulated man-1-p is able to improve glycosylation in several CDG! sciencedirect.com/science/articl… FCDGC

FCDGC Rohit budhraja Glycomine Bio 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…

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 FCDGC

New research from FCDGC: ✅ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG Listen and read more: rarediseasesnetwork.org/news/research-…

🎙 New podcast episode! ➡️ Investigating the Effects of #Glycan Extension Deficiency in #ALG3CDG Listen and subscribe: spreaker.com/episode/fcdgc-… FCDGC

New paper drawing on data from FCDGC 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

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 FCDGC

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!

🚨 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… Perlara Cure DHDDS FCDGC World CDG Organization

Exploring the Natural History of #CongenitalDisordersOfGlycosylation New in Genetics & Genomics from FCDGC: sciencedirect.com/science/articl…

New research from FCDGC: ✅ Exploring the #NaturalHistory of #CongenitalDisordersOfGlycosylation Listen and subscribe: rarediseasesnetwork.org/news/research-…