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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Veröffentlicht in:	Journal of inherited metabolic disease 2020-11, Vol.43 (6), p.1310-1320
Hauptverfasser:	Jansen, Jos C., Hoek, Bart, Metselaar, Herold J., Berg, Aad P., Zijlstra, Fokje, Huijben, Karin, Scherpenzeel, Monique, Drenth, Joost P. H., Lefeber, Dirk J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine triphosphatase congenital disorders of glycosylation end‐stage liver disease Glycosylation hyperfucosylation Isoelectric focusing Liver diseases Liver transplantation Liver transplants Mass spectroscopy N‐glycosylation Original Transferrins V‐ATPase assembly factor defects
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