A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder

Congenital disorders of glycosylation are a genetically and phenotypically heterogeneous family of diseases affecting the co‐ and posttranslational modification of proteins. Using exome sequencing, we detected biallelic variants in GFUS (NM_003313.4) c.[632G>A];[659C>T] (p.[Gly211Glu];[Ser220L...

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Detalles Bibliográficos
Autores principales: Feichtinger, René G, Hüllen, Andreas, Koller, Andreas, Kotzot, Dieter, Grote, Valerian, Rapp, Erdmann, Hofbauer, Peter, Brugger, Karin, Thiel, Christian, Mayr, Johannes A, Wortmann, Saskia B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422078/
https://www.ncbi.nlm.nih.gov/pubmed/34468083
http://dx.doi.org/10.15252/emmm.202114332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422078/
https://www.ncbi.nlm.nih.gov/pubmed/34468083
http://dx.doi.org/10.15252/emmm.202114332

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