N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

PURPOSE: Congenital disorders of glycosylation (CDG) are a growing group of inborn metabolic disorders with multiorgan presentation. SLC39A8-CDG is a severe subtype caused by biallelic mutations in the manganese transporter SLC39A8, reducing levels of this essential cofactor for many enzymes includi...

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Publicat a:J Inherit Metab Dis
Autors principals: Park, Julien H, Mealer, Robert G, Elias, Abdallah F, Hoffmann, Susanne, Grüneberg, Marianne, Biskup, Saskia, Fobker, Manfred, Haven, Jaclyn, Mangels, Ute, Reunert, Janine, Rust, Stephan, Schoof, Jonathan, Schwanke, Corbin, Smoller, Jordan W, Cummings, Richard D, Marquardt, Thorsten
Format: Artigo
Idioma:Inglês
Publicat: 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8086894/
https://ncbi.nlm.nih.gov/pubmed/32852845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12306
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