{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T11:18:53Z","timestamp":1776943133215,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,23]],"date-time":"2020-02-23T00:00:00Z","timestamp":1582416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DK099551"],"award-info":[{"award-number":["R01DK099551"]}],"id":[{"id":"10.13039\/100000002","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":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in the Golgi localised alpha 1,6 fucosyltransferase, <jats:italic>FUT8<\/jats:italic>, cause a rare inherited metabolic disorder known as FUT8\u2010CDG. To date, only three affected individuals have been reported presenting with a constellation of symptoms including intrauterine growth restriction, severe delays in growth and development, other neurological impairments, significantly shortened limbs, respiratory complications, and shortened lifespan. Here, we report an additional four unrelated affected individuals homozygous for novel pathogenic variants in <jats:italic>FUT8.<\/jats:italic> Analysis of serum <jats:italic>N<\/jats:italic>\u2010glycans revealed a complete lack of core fucosylation, an important diagnostic biomarker of FUT8\u2010CDG. Our data expands both the molecular and clinical phenotypes of FUT8\u2010CDG and highlights the importance of identifying a reliable biomarker for confirming potentially pathogenic variants.<\/jats:p>","DOI":"10.1002\/jimd.12221","type":"journal-article","created":{"date-parts":[[2020,2,12]],"date-time":"2020-02-12T15:31:27Z","timestamp":1581521487000},"page":"871-879","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Expanding the molecular and clinical phenotypes of FUT8\u2010CDG"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0649-848X","authenticated-orcid":false,"given":"Bobby G.","family":"Ng","sequence":"first","affiliation":[{"name":"Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute  La Jolla California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Dastsooz","sequence":"additional","affiliation":[{"name":"Department of Life Sciences and Systems Biology Italian Institute for Genomic Medicine (IIGM), University of Turin  Turin Italy"},{"name":"Persian BayanGene Research and Training Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Silawi","sequence":"additional","affiliation":[{"name":"Persian BayanGene Research and Training Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parham","family":"Habibzadeh","sequence":"additional","affiliation":[{"name":"Persian BayanGene Research and Training Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shima B.","family":"Jahan","sequence":"additional","affiliation":[{"name":"Persian BayanGene Research and Training Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad A. 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