A complement C4–derived glycopeptide is a biomarker for PMM2-CDG

BACKGROUND: Diagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age. Site-specific changes in protein N-glycosylation have not been r...

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Enregistré dans:
Détails bibliographiques
Publié dans:JCI Insight
Auteurs principaux: Garapati, Kishore, Budhraja, Rohit, Saraswat, Mayank, Kim, Jinyong, Joshi, Neha, Sachdeva, Gunveen S., Jain, Anu, Ligezka, Anna N., Radenkovic, Silvia, Ramarajan, Madan Gopal, Udainiya, Savita, Raymond, Kimiyo, He, Miao, Lam, Christina, Larson, Austin, Edmondson, Andrew C., Sarafoglou, Kyriakie, Larson, Nicholas B., Freeze, Hudson H., Schultz, Matthew J., Kozicz, Tamas, Morava, Eva, Pandey, Akhilesh
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2024
Sujets:
Clinical Medicine
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7615924/
https://ncbi.nlm.nih.gov/pubmed/38587076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.172509
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