{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T19:53:01Z","timestamp":1784231581301,"version":"3.55.0"},"reference-count":39,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T00:00:00Z","timestamp":1594944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a rapidly expanding group of rare genetic defects in glycosylation. In a novel CDG subgroup of vacuolar\u2010ATPase (V\u2010ATPase) assembly defects, various degrees of hepatic injury have been described, including end\u2010stage liver disease. However, the CDG diagnostic workflow can be complex as liver disease per se may be associated with abnormal glycosylation. Therefore, we collected serum samples of patients with a wide range of liver pathology to study the performance and yield of two CDG screening methods. Our aim was to identify glycosylation patterns that could help to differentiate between primary and secondary glycosylation defects in liver disease. To this end, we analyzed serum samples of 1042 adult liver disease patients. This cohort consisted of 567 liver transplant candidates and 475 chronic liver disease patients. Our workflow consisted of screening for abnormal glycosylation by transferrin isoelectric focusing (tIEF), followed by in\u2010depth analysis of the abnormal samples with quadruple time\u2010of\u2010flight mass spectrometry (QTOF\u2010MS). Screening with tIEF resulted in identification of 247 (26%) abnormal samples. QTOF\u2010MS analysis of 110 of those did not reveal glycosylation abnormalities comparable with those seen in V\u2010ATPase assembly factor defects. However, two patients presented with isolated sialylation deficiency. Fucosylation was significantly increased in liver transplant candidates compared to healthy controls and patients with chronic liver disease. In conclusion, a significant percentage of patients with liver disease presented with abnormal CDG screening results. However, the glycosylation pattern was not indicative for a V\u2010ATPase assembly factor defect. Advanced glycoanalytical techniques assist in the dissection of secondary and primary glycosylation defects.<\/jats:p>","DOI":"10.1002\/jimd.12273","type":"journal-article","created":{"date-parts":[[2020,6,18]],"date-time":"2020-06-18T15:31:20Z","timestamp":1592494280000},"page":"1310-1320","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Screening for abnormal glycosylation in a cohort of adult liver disease patients"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8322-387X","authenticated-orcid":false,"given":"Jos C.","family":"Jansen","sequence":"first","affiliation":[{"name":"Department of Gastroenterology and Hepatology Radboud University Medical Centre  Nijmegen Netherlands"},{"name":"Department of Neurology, Translational Metabolic Laboratory Radboud University Medical Centre  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"van Hoek","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herold J.","family":"Metselaar","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Erasmus Medical Centre Rotterdam  Rotterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aad P.","family":"van den Berg","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology University Medical Centre Groningen  Groningen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fokje","family":"Zijlstra","sequence":"additional","affiliation":[{"name":"Department of Neurology, Translational Metabolic Laboratory Radboud University Medical Centre  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Huijben","sequence":"additional","affiliation":[{"name":"Department of Neurology, Translational Metabolic Laboratory Radboud University Medical Centre  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"van Scherpenzeel","sequence":"additional","affiliation":[{"name":"Department of Neurology, Translational Metabolic Laboratory Radboud University Medical Centre  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost P. 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