Cargando…
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...
Autores principales: | 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. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7689844/ https://www.ncbi.nlm.nih.gov/pubmed/32557671 http://dx.doi.org/10.1002/jimd.12273 |
Ejemplares similares
-
NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects
por: Jansen, Jos C., et al.
Publicado: (2018) -
Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation
por: Van Scherpenzeel, Monique, et al.
Publicado: (2016) -
Clinical glycomics for the diagnosis of congenital disorders of glycosylation
por: Abu Bakar, Nurulamin, et al.
Publicado: (2018) -
Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes
por: Baerenfaenger, Melissa, et al.
Publicado: (2023) -
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
por: Linders, Peter T. A., et al.
Publicado: (2021)