{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T16:15:56Z","timestamp":1790180156353,"version":"4.1.0"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T00:00:00Z","timestamp":1597017600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_cclm-2020-0650_abs_001_w2aab3b7c94b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Congenital disorders of N-glycosylation (CDG) are a large group of rare metabolic disorders caused by defects in the most common post-translational modification of proteins. CDGs are often difficult to diagnose as they are manifested with non-specific symptoms and signs. Analysis of serum transferrin (TRF) isoforms, as the classical procedure used to identify a CDG patient, enables to predict pathological steps in the N-linked glycosylation process.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2020-0650_abs_002_w2aab3b7c94b1b6b1aab1c16b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We devised a new strategy based on liquid chromatography-mass spectrometry (LC-MS) for the analysis of TRF isoforms by combining a simple and fast sample preparation with a specific chromatographic cleanup\/separation step followed by mass-spectrometric measurement. Single TRF isoform masses were obtained through reconstruction of multiply charged electrospray data collected by quadrupole-MS technology. Hereby, we report the first analyzed serum samples obtained from 20 CDG patients and 100 controls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2020-0650_abs_003_w2aab3b7c94b1b6b1aab1c16b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The ratio of desialylated isoforms to total TRF was calculated for patients and controls. CDG-Type I patients showed higher amounts of bi-sialo isoform (range: 6.7\u201329.6%) compared to controls (&lt;5.5%, mean percentage 3.9%). CDG-Type II pattern showed an increased peak of tri-sialo isoforms. The mean percentage of tri-sialo-TRF was 9.3% (range: 2.9\u201312.9%) in controls, which was lower than that obtained from two patients with COG5-CDG and MAN1B1-CDG (18.5 and 24.5%). Intraday and between-day imprecisions were less than 9 and 16%, respectively, for bi-sialo- and less than 3 and 6% for tri-sialo-TRF.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2020-0650_abs_004_w2aab3b7c94b1b6b1aab1c16b4Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This LC-MS-based approach provides a simple, sensitive and fast analytical tool for characterizing CDG disorders in a routine clinical biochemistry while improving diagnostic accuracy and speeding clinical decision-making.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/cclm-2020-0650","type":"journal-article","created":{"date-parts":[[2020,8,18]],"date-time":"2020-08-18T07:10:09Z","timestamp":1597734609000},"page":"165-171","source":"Crossref","is-referenced-by-count":7,"title":["A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)"],"prefix":"10.1515","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4663-1468","authenticated-orcid":false,"given":"Bruno","family":"Casetta","sequence":"first","affiliation":[{"name":"Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories , Meyer Children\u2019s University Hospital , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Malvagia","sequence":"additional","affiliation":[{"name":"Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories , Meyer Children\u2019s University Hospital , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Funghini","sequence":"additional","affiliation":[{"name":"Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories , Meyer Children\u2019s University Hospital , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Department of Pediatric Specialties , Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS , Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Department of Pediatric Specialties , Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS , Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Barone","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine , University of Catania , Catania , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Fiumara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Regional Referral Center for Inherited Metabolic Disease , University of Catania , Catania , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Alice","family":"Donati","sequence":"additional","affiliation":[{"name":"Metabolic and Neuromuscular Unit , Meyer Children\u2019s University Hospital , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories , Meyer Children\u2019s University Hospital , Florence , Italy"},{"name":"Neuroscience Department , Meyer Children\u2019s Hospital, University of Florence , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3319-7260","authenticated-orcid":false,"given":"Giancarlo","family":"la Marca","sequence":"additional","affiliation":[{"name":"Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories , Meyer Children\u2019s University Hospital , Florence , Italy"},{"name":"Experimental and Clinical Biomedical Sciences , University of Florence , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,8,10]]},"reference":[{"key":"2022031413372905622_j_cclm-2020-0650_ref_001_w2aab3b7c94b1b6b1ab2b1b1Aa","unstructured":"Freeze, HH, Schachter, H. 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