{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T14:16:57Z","timestamp":1789654617052,"version":"4.0.1"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Background: Apolipoprotein C-III (apoC-III) isoelectric focusing (IEF) can be used to detect abnormalities in the biosynthesis of core 1 mucin-type O-glycans.<\/jats:p>\n               <jats:p>Methods: We studied plasma samples from 55 patients with various primary defects in N- and\/or O-glycosylation, 21 patients with secondary N-glycosylation defects, and 6 patients with possible glycosylation abnormalities. Furthermore, we analyzed 500 plasma samples that were sent to our laboratory for selective screening for inborn errors of metabolism.<\/jats:p>\n               <jats:p>Results: Plasma samples from patients with congenital disorders of glycosylation (CDG) types \u2013IIe and \u2013IIf showed a hypoglycosylated apoC-III isoform profile, as did plasma samples from 75% of the patients with an unspecified CDG type II. Hyposialylated O-glycan profiles were also seen in plasma from 2 patients with hemolytic-uremic syndrome. In the 500 plasma samples from the selective screening, 3 patients were identified with a possible isolated defect in the biosynthesis of core 1 mucin-type O-glycans.<\/jats:p>\n               <jats:p>Conclusions: To our knowledge this is the first study in which use of a plasma marker protein has identified patients in whom only O-glycan biosynthesis might be affected. The primary defect(s) remain as yet unknown. Plasma apoC-III IEF is complementary to transferrin isofocusing. In conjunction both tests identify biosynthesis defects in N-glycan and mucin-type core 1 O-glycan biosynthesis. The apoC-III IEF assay is likely to help metabolic laboratories to identify and unravel further subtypes of inborn errors of glycan biosynthesis.<\/jats:p>","DOI":"10.1373\/clinchem.2006.073940","type":"journal-article","created":{"date-parts":[[2006,12,15]],"date-time":"2006-12-15T01:39:29Z","timestamp":1166146769000},"page":"180-187","source":"Crossref","is-referenced-by-count":52,"title":["Transferrin and Apolipoprotein C-III Isofocusing Are Complementary in the Diagnosis of N- and O-Glycan Biosynthesis Defects"],"prefix":"10.1093","volume":"53","author":[{"given":"Suzan","family":"Wopereis","sequence":"first","affiliation":[{"name":"Departments of Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Gru\u0308newald","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolic Medicine and Institute for Child Health, Great Ormond Street Hospital, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin MLC","family":"Huijben","sequence":"first","affiliation":[{"name":"Departments of Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E\u0301va","family":"Morava","sequence":"first","affiliation":[{"name":"Departments of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosella","family":"Mollicone","sequence":"first","affiliation":[{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM U602), Groupement de Recherche, Paul Brousse Hospital, University of Paris Villejuif, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baziel GM","family":"van Engelen","sequence":"first","affiliation":[{"name":"Departments of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J","family":"Lefeber","sequence":"first","affiliation":[{"name":"Departments of Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron A","family":"Wevers","sequence":"first","affiliation":[{"name":"Departments of Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2007,2,1]]},"reference":[{"key":"2020022802462119900_R1","doi-asserted-by":"crossref","unstructured":"Wopereis S, Gru\u0308newald S, Morava E, Penzien JM, Briones P, Garcia Silva MT, et al. 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