{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T04:27:16Z","timestamp":1751430436347,"version":"3.37.3"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T00:00:00Z","timestamp":1630368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T00:00:00Z","timestamp":1630368000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1038\/s10038-021-00974-2","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T01:02:19Z","timestamp":1630371739000},"page":"103-106","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis"],"prefix":"10.1038","volume":"67","author":[{"given":"Shanyu","family":"Pi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaoe","family":"Gong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenbiao","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Mao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5641-8850","authenticated-orcid":false,"given":"Hongyu","family":"Long","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,8,31]]},"reference":[{"key":"974_CR1","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1038\/s41580-020-00294-x","volume":"21","author":"KT Schjoldager","year":"2020","unstructured":"Schjoldager KT, Narimatsu Y, Joshi HJ, Clausen H. Global view of human protein glycosylation pathways and functions. Nat Rev Mol Cell Biol. 2020;21:729\u201349.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"974_CR2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01630-2","volume":"16","author":"RT Starosta","year":"2021","unstructured":"Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, et al. Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up. Orphanet J Rare Dis. 2021;16:20.","journal-title":"Orphanet J Rare Dis"},{"key":"974_CR3","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1007\/s10545-011-9299-3","volume":"34","author":"J Jaeken","year":"2011","unstructured":"Jaeken J. Congenital disorders of glycosylation (CDG): it\u2019s (nearly) all in it! J Inherit Metab Dis. 2011;34:853\u20138.","journal-title":"J Inherit Metab Dis"},{"key":"974_CR4","doi-asserted-by":"crossref","unstructured":"Hipgrave Ederveen AL, de Haan N, Baerenfaenger M, Lefeber DJ, Wuhrer M. Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation. Int J Mol Sci. 2020;21:7635.","DOI":"10.3390\/ijms21207635"},{"key":"974_CR5","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1016\/j.bbadis.2008.11.002","volume":"1792","author":"H Schachter","year":"2009","unstructured":"Schachter H, Freeze HH. Glycosylation diseases: quo vadis? Biochim Biophys Acta. 2009;1792:925\u201330.","journal-title":"Biochim Biophys Acta"},{"key":"974_CR6","unstructured":"Sparks SE, Krasnewich DM. Congenital disorders of N-linked glycosylation and multiple pathway overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. GeneReviews(\u00ae). Seattle (WA): University of Washington, Seattle. Copyright \u00a9 1993\u20132021, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993."},{"key":"974_CR7","doi-asserted-by":"crossref","unstructured":"Mohanty S, Chaudhary BP, Zoetewey D. Structural Insight into the Mechanism of N-Linked Glycosylation by Oligosaccharyltransferase. Biomolecules. 2020;10:624.","DOI":"10.3390\/biom10040624"},{"key":"974_CR8","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1002\/ajmg.a.61553","volume":"182","author":"EM Bryant","year":"2020","unstructured":"Bryant EM, Millichap JJ, Spinelli E, Calhoun JD, Miller C, Giannelli J, et al. Oligosaccharyltransferase complex-congenital disorders of glycosylation: aa novel congenital disorder of glycosylation. Am J Med Genet A. 2020;182:1460\u20135.","journal-title":"Am J Med Genet A"},{"key":"974_CR9","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.ajhg.2011.12.024","volume":"90","author":"MA Jones","year":"2012","unstructured":"Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, et al. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet. 2012;90:363\u20138.","journal-title":"Am J Hum Genet"},{"key":"974_CR10","doi-asserted-by":"publisher","first-page":"1150","DOI":"10.1016\/j.ajhg.2008.03.021","volume":"82","author":"F Molinari","year":"2008","unstructured":"Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, et al. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet. 2008;82:1150\u20137.","journal-title":"Am J Hum Genet"},{"key":"974_CR11","doi-asserted-by":"publisher","first-page":"4638","DOI":"10.1093\/hmg\/ddt312","volume":"22","author":"S Shrimal","year":"2013","unstructured":"Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013;22:4638\u201345.","journal-title":"Hum Mol Genet"},{"key":"974_CR12","doi-asserted-by":"publisher","first-page":"9865","DOI":"10.1073\/pnas.1817815116","volume":"116","author":"E Blommaert","year":"2019","unstructured":"Blommaert E, P\u00e9anne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, et al. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. Proc Natl Acad Sci USA. 2019;116:9865\u201370.","journal-title":"Proc Natl Acad Sci USA"},{"key":"974_CR13","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.ymgme.2020.08.003","volume":"131","author":"F Conte","year":"2020","unstructured":"Conte F, Morava E, Bakar NA, Wortmann SB, Poerink AJ, Grunewald S, et al. Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Mol Genet Metab. 2020;131:135\u201346.","journal-title":"Mol Genet Metab"},{"key":"974_CR14","doi-asserted-by":"publisher","first-page":"e19","DOI":"10.1017\/erm.2014.22","volume":"16","author":"H Deng","year":"2015","unstructured":"Deng H, Xia H, Deng S. Genetic basis of human left-right asymmetry disorders. Expert Rev Mol Med. 2015;16:e19.","journal-title":"Expert Rev Mol Med"},{"key":"974_CR15","doi-asserted-by":"publisher","first-page":"2915","DOI":"10.1073\/pnas.1019645108","volume":"108","author":"KA Fakhro","year":"2011","unstructured":"Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, et al. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci USA. 2011;108:2915\u201320.","journal-title":"Proc Natl Acad Sci USA"},{"key":"974_CR16","doi-asserted-by":"publisher","first-page":"2056","DOI":"10.1002\/j.1460-2075.1994.tb06480.x","volume":"13","author":"M Metzler","year":"1994","unstructured":"Metzler M, Gertz A, Sarkar M, Schachter H, Schrader JW, Marth JD. Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development. EMBO J. 1994;13:2056\u201365.","journal-title":"EMBO J"},{"key":"974_CR17","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1038\/nature12723","volume":"504","author":"MT Boskovski","year":"2013","unstructured":"Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, et al. The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. Nature. 2013;504:456\u20139.","journal-title":"Nature"},{"key":"974_CR18","doi-asserted-by":"publisher","first-page":"8560","DOI":"10.1074\/jbc.RA119.012280","volume":"295","author":"SMD Alam","year":"2020","unstructured":"Alam SMD, Tsukamoto Y, Ogawa M, Senoo Y, Ikeda K, Tashima Y, et al. N-glycans on EGF domain-specific O-GlcNAc transferase (EOGT) facilitate EOGT maturation and peripheral endoplasmic reticulum localization. J Biol Chem. 2020;295:8560\u201374.","journal-title":"J Biol Chem"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00974-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00974-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00974-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,25]],"date-time":"2022-01-25T00:03:55Z","timestamp":1643069035000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00974-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,31]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["974"],"URL":"https:\/\/doi.org\/10.1038\/s10038-021-00974-2","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"type":"print","value":"1434-5161"},{"type":"electronic","value":"1435-232X"}],"subject":[],"published":{"date-parts":[[2021,8,31]]},"assertion":[{"value":"22 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 August 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 August 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 August 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}