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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Bibliografske podrobnosti
izdano v:JCI Insight
Main Authors: 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
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2024
Teme:
Clinical Medicine
Online dostop: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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