{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T06:14:26Z","timestamp":1793427266236,"version":"4.5.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,3,25]],"date-time":"2025-03-25T00:00:00Z","timestamp":1742860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016685","name":"Baylor-Hopkins Center for Mendelian Genomics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016685","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000850","name":"National Heart and Lung Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000862","name":"Doris Duke Charitable Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000862","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart Lung and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2025,5]]},"DOI":"10.1016\/j.ajhg.2025.03.018","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T10:50:18Z","timestamp":1745319018000},"page":"1139-1157","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation"],"prefix":"10.1016","volume":"112","author":[{"given":"Zain","family":"Dardas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Harrold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"Calame","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire G.","family":"Salter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Kikuma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin P.","family":"Guay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bobby G.","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanae","family":"Sano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad K.","family":"Saad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haowei","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Sangermano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sohil G.","family":"Patankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini N.","family":"Jhangiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra","family":"G\u00fcrsoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed S.","family":"Abdel-Hamid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud K.H.","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rauan","family":"Kaiyrzhanov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamran","family":"Salayev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy D.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"P\u00e9rez Caballero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"McGavin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Spiller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miranda","family":"Durkie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"O\u2019Grady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Goldenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann M.","family":"Neumeyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Begtrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherif F.","family":"Abdel-Ghafar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia K.","family":"Wenger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethan M.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinga M.","family":"Bujakowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davut","family":"Pehlivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Marafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph S.","family":"Leslie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishanka","family":"Ubeyratna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Day","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Owens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Settle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soher","family":"Balkhy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Tamim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama","family":"Alabdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Takeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hudson H.","family":"Freeze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel N.","family":"Hebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew H.","family":"Crosby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6637-3411","authenticated-orcid":false,"given":"Emma L.","family":"Baple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2025.03.018_bib1","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1038\/s41581-019-0129-4","article-title":"Glycosylation in health and disease","volume":"15","author":"Reily","year":"2019","journal-title":"Nat. Rev. Nephrol."},{"key":"10.1016\/j.ajhg.2025.03.018_bib2","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbagen.2020.129751","article-title":"Congenital disorders of glycosylation: Still \u201chot\u201d in 2020","volume":"1865","author":"Ondruskova","year":"2021","journal-title":"Biochim. Biophys. Acta. Gen. Subj."},{"key":"10.1016\/j.ajhg.2025.03.018_bib3","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/s41436-019-0647-2","article-title":"Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update","volume":"22","author":"Verheijen","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2025.03.018_bib4","doi-asserted-by":"crossref","first-page":"477","DOI":"10.21037\/atm.2018.10.45","article-title":"Congenital disorders of glycosylation","volume":"6","author":"Chang","year":"2018","journal-title":"Ann. Transl. Med."},{"key":"10.1016\/j.ajhg.2025.03.018_bib5","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s10930-019-09831-w","article-title":"Protein Quality Control in the Endoplasmic Reticulum","volume":"38","author":"Adams","year":"2019","journal-title":"Protein J."},{"key":"10.1016\/j.ajhg.2025.03.018_bib6","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/jimd.12024","article-title":"International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up","volume":"42","author":"Altassan","year":"2019","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2025.03.018_bib7","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1186\/s13023-014-0207-4","article-title":"29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype","volume":"9","author":"Monin","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2025.03.018_bib8","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1136\/jmedgenet-2021-108177","article-title":"Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation","volume":"59","author":"Shimada","year":"2022","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib9","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1016\/j.ajhg.2016.05.004","article-title":"Mutations in GANAB, Encoding the Glucosidase II\u03b1 Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease","volume":"98","author":"Porath","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib10","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.ejmg.2018.06.011","article-title":"MAN1B-CDG: Novel variants with a distinct phenotype and review of literature","volume":"62","author":"Balasubramanian","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib11","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/j.ajhg.2021.05.010","article-title":"Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation","volume":"108","author":"Polla","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib12","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1093\/glycob\/cww069","article-title":"Effects of domain composition on catalytic activity of human UDP-glucose:glycoprotein glucosyltransferases","volume":"26","author":"Takeda","year":"2016","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2025.03.018_bib13","doi-asserted-by":"crossref","first-page":"46280","DOI":"10.1074\/jbc.M408404200","article-title":"The endoplasmic reticulum glucosyltransferase recognizes nearly native glycoprotein folding intermediates","volume":"279","author":"Caramelo","year":"2004","journal-title":"J.\u00a0Biol.\u00a0Chem."},{"key":"10.1016\/j.ajhg.2025.03.018_bib14","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1016\/j.semcdb.2009.12.007","article-title":"ERAD substrates: Which way out?","volume":"21","author":"Hebert","year":"2010","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.03.018_bib15","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.16950","article-title":"Global, quantitative and dynamic mapping of protein subcellular localization","volume":"5","author":"Itzhak","year":"2016","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2025.03.018_bib16","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.63997","article-title":"Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2","volume":"9","author":"Adams","year":"2020","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2025.03.018_bib17","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/j.molcel.2005.09.027","article-title":"Persistent glycoprotein misfolding activates the glucosidase II\/UGT1-driven calnexin cycle to delay aggregation and loss of folding competence","volume":"20","author":"Molinari","year":"2005","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2025.03.018_bib18","doi-asserted-by":"crossref","first-page":"4547","DOI":"10.1093\/brain\/awad235","article-title":"SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission","volume":"146","author":"Fasham","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2025.03.018_bib19","doi-asserted-by":"crossref","first-page":"k1687","DOI":"10.1136\/bmj.k1687","article-title":"The 100 000 Genomes Project: bringing whole genome sequencing to the NHS","volume":"361","author":"Turnbull","year":"2018","journal-title":"BMJ (Clinical research ed.)"},{"key":"10.1016\/j.ajhg.2025.03.018_bib20","unstructured":"Genomics England. The National Genomics Research Library\u00a0v5.1. 2020. https:\/\/doi.org\/10.6084\/m9.figshare.4530893.v7"},{"key":"10.1016\/j.ajhg.2025.03.018_bib21","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ajhg.2020.06.013","article-title":"De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism","volume":"107","author":"Guillen Sacoto","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib22","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1016\/j.ajhg.2019.04.011","article-title":"Lessons Learned from\u00a0Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population","volume":"104","author":"Monies","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib23","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1016\/j.ajhg.2023.06.013","article-title":"Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease","volume":"110","author":"Calame","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib24","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1111\/cge.14421","article-title":"Delineating the phenotype of PNPLA8-related mitochondriopathies","volume":"105","author":"Abdel-Hamid","year":"2024","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib25","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/s41431-017-0088-9","article-title":"Biallelic variants in KIF14 cause intellectual disability with microcephaly","volume":"26","author":"Makrythanasis","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib26","doi-asserted-by":"crossref","first-page":"4524","DOI":"10.1016\/j.molcel.2023.11.006","article-title":"ER chaperones use a protein folding and quality control glyco-code","volume":"83","author":"Guay","year":"2023","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2025.03.018_bib27","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.bbrc.2022.04.094","article-title":"In\u00a0vitro mannosidase activity of EDEM3 against asparagine-linked oligomannose-type glycans","volume":"612","author":"Kikuma","year":"2022","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2025.03.018_bib28","article-title":"A high throughput splicing assay to investigate the effect of variants of unknown significance on exon inclusion","author":"Scott","year":"2022","journal-title":"medRxiv"},{"key":"10.1016\/j.ajhg.2025.03.018_bib29","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/978-1-4939-3572-7_13","article-title":"Optimizing RNA-Seq Mapping with STAR","volume":"1415","author":"Dobin","year":"2016","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2025.03.018_bib30","doi-asserted-by":"crossref","first-page":"6079","DOI":"10.1038\/s41598-017-05445-3","article-title":"A population-specific reference panel empowers genetic studies of Anabaptist populations","volume":"7","author":"Hou","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2025.03.018_bib31","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2025.03.018_bib32","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1016\/j.ajhg.2018.10.021","article-title":"Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation","volume":"103","author":"Ng","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib33","doi-asserted-by":"crossref","first-page":"1981","DOI":"10.1016\/j.ajhg.2021.08.009","article-title":"High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population","volume":"108","author":"Mitani","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.03.018_bib34","first-page":"100775","article-title":"MAN1B1-CDG: Three new individuals and associated biochemical profiles","volume":"28","author":"Sakhi","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ajhg.2025.03.018_bib35","doi-asserted-by":"crossref","first-page":"8544","DOI":"10.1073\/pnas.1703682114","article-title":"Interdomain conformational flexibility underpins the activity of UGGT, the eukaryotic glycoprotein secretion checkpoint","volume":"114","author":"Roversi","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2025.03.018_bib36","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.semcdb.2014.11.011","article-title":"Functional analysis of endoplasmic reticulum glucosyltransferase (UGGT): Synthetic chemistry\u2019s initiative in glycobiology","volume":"41","author":"Ito","year":"2015","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.03.018_bib37","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abc1370","article-title":"The structural basis for Z \u03b11-antitrypsin polymerization in the liver","volume":"6","author":"Faull","year":"2020","journal-title":"Sci. Adv."},{"key":"10.1016\/j.ajhg.2025.03.018_bib38","doi-asserted-by":"crossref","DOI":"10.1016\/j.medj.2024.10.005","article-title":"Arab founder variants: Contributions to clinical genomics and precision medicine","volume":"6","author":"AlAbdi","year":"2025","journal-title":"Med"},{"key":"10.1016\/j.ajhg.2025.03.018_bib39","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.braindev.2020.10.013","article-title":"Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction","volume":"43","author":"Anzai","year":"2021","journal-title":"Brain Dev."},{"key":"10.1016\/j.ajhg.2025.03.018_bib40","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1038\/s41436-020-0767-8","article-title":"Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG","volume":"22","author":"Witters","year":"2020","journal-title":"Genet. Med."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929725001399?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929725001399?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T20:59:10Z","timestamp":1783025950000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929725001399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["S0002929725001399"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2025.03.018","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2025.03.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Inc. on behalf of American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}