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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2024
Assuntos:
Clinical Medicine
Acesso em linha: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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