{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:52Z","timestamp":1786978012201,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T00:00:00Z","timestamp":1631664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004061","name":"Oesterreichische Nationalbank","doi-asserted-by":"publisher","award":["18023"],"award-info":[{"award-number":["18023"]}],"id":[{"id":"10.13039\/501100004061","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fucosylation is essential for intercellular and intracellular recognition, cell\u2010cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8\u2010CDG, FCSK\u2010CDG, POFUT1\u2010CDG SLC35C1\u2010CDG, and the only recently described GFUS\u2010CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the\n                    <jats:italic>SLC35C1<\/jats:italic>\n                    gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12426","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T00:41:23Z","timestamp":1628815283000},"page":"1441-1452","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Congenital disorders of glycosylation with defective fucosylation"],"prefix":"10.1002","volume":"44","author":[{"given":"Andreas","family":"H\u00fcllen","sequence":"first","affiliation":[{"name":"Centre for Child and Adolescent Medicine, Department 1 University of Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Falkenstein","sequence":"additional","affiliation":[{"name":"Centre for Child and Adolescent Medicine, Department 1 University of Heidelberg  Heidelberg 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Pediatrics, Dr von Hauner Children's Hospital University Hospital, Ludwig\u2010Maximilians\u2010Universit\u00e4t M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Kotlarz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr von Hauner Children's Hospital University Hospital, Ludwig\u2010Maximilians\u2010Universit\u00e4t M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6302-8420","authenticated-orcid":false,"given":"Tooba","family":"Momen","sequence":"additional","affiliation":[{"name":"Department of Asthma, Allergy and Clinical Immunology, Child Growth and Development Research Center Research Institute for Primordial Prevention of Non\u2010Communicable Disease, Isfahan University of Medical Sciences  Isfahan 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