Screening for abnormal glycosylation in a cohort of adult liver disease patients

Congenital disorders of glycosylation (CDG) are a rapidly expanding group of rare genetic defects in glycosylation. In a novel CDG subgroup of vacuolar‐ATPase (V‐ATPase) assembly defects, various degrees of hepatic injury have been described, including end‐stage liver disease. However, the CDG diagn...

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Vydáno v:J Inherit Metab Dis
Hlavní autoři: Jansen, Jos C., van Hoek, Bart, Metselaar, Herold J., van den Berg, Aad P., Zijlstra, Fokje, Huijben, Karin, van Scherpenzeel, Monique, Drenth, Joost P. H., Lefeber, Dirk J.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7689844/
https://ncbi.nlm.nih.gov/pubmed/32557671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12273
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