{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T03:53:00Z","timestamp":1793937180449,"version":"4.8.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:00:00Z","timestamp":1712707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.ymgme.2024.108476","type":"journal-article","created":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T15:32:40Z","timestamp":1712763160000},"page":"108476","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":84,"title":["Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology"],"prefix":"10.1016","volume":"142","author":[{"given":"Bobby G.","family":"Ng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hudson H.","family":"Freeze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nastassja","family":"Himmelreich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"Blau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2024.108476_bb0005","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/nrg1894","article-title":"Genetic defects in the human glycome","volume":"7","author":"Freeze","year":"2006","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ymgme.2024.108476_bb0010","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1186\/s13023-023-02879-z","article-title":"Congenital disorders of glycosylation (CDG): state of the art in 2022","volume":"18","author":"Francisco","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2024.108476_bb0015","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1203\/00006450-198002000-00117","article-title":"Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome","volume":"14","author":"Jaeken","year":"1980","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2024.108476_bb0020","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.bbadis.2009.08.005","article-title":"CDG nomenclature: time for a change!","volume":"1792","author":"Jaeken","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2024.108476_bb0025","doi-asserted-by":"crossref","first-page":"3244","DOI":"10.1093\/hmg\/ddp262","article-title":"Golgi function and dysfunction in the first COG4-deficient CDG type II patient","volume":"18","author":"Reynders","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2024.108476_bb0030","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/s41436-019-0737-1","article-title":"Defining the clinical phenotype of Saul-Wilson syndrome","volume":"22","author":"Ferreira","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2024.108476_bb0035","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1016\/j.ajhg.2021.04.013","article-title":"A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction","volume":"108","author":"Ng","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2024.108476_bb0040","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/jimd.12498","article-title":"CDG or not CDG","volume":"45","author":"Freeze","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108476_bb0045","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1093\/glycob\/8.4.351","article-title":"Defective galactosylation of serum transferrin in galactosemia","volume":"8","author":"Charlwood","year":"1998","journal-title":"Glycobiology"},{"key":"10.1016\/j.ymgme.2024.108476_bb0050","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ymgme.2011.10.018","article-title":"IgG N-glycans as potential biomarkers for determining galactose tolerance in classical Galactosaemia","volume":"105","author":"Coss","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2024.108476_bb0055","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s10545-007-0569-z","article-title":"Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls","volume":"30","author":"Adamowicz","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108476_bb0060","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1091\/mbc.E21-04-0169","article-title":"The Golgi-associated retrograde protein (GARP) complex plays an essential role in the maintenance of the Golgi glycosylation machinery","volume":"32","author":"Khakurel","year":"2021","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ymgme.2024.108476_bb0065","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1093\/hmg\/ddy423","article-title":"A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes","volume":"28","author":"Gershlick","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2024.108476_bb0070","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/gim.2017.108","article-title":"Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism","volume":"20","author":"Lee","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2024.108476_bb0075","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/s41436-018-0022-8","article-title":"A proposed nosology of inborn errors of metabolism","volume":"21","author":"Ferreira","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2024.108476_bb0080","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/jimd.12348","article-title":"An international classification of inherited metabolic disorders (ICIMD)","volume":"44","author":"Ferreira","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108476_bb0085","series-title":"Essentials of Glycobiology","year":"2022"},{"key":"10.1016\/j.ymgme.2024.108476_bb0090","article-title":"Lysosomal enzyme trafficking: from molecular mechanisms to human diseases","author":"Braulke","year":"2023","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.ymgme.2024.108476_bb0095","series-title":"Essentials of Glycobiology","first-page":"689","article-title":"Glycomics and Glycoproteomics","author":"Rudd","year":"2022"},{"issue":"3109\u20133124","key":"10.1016\/j.ymgme.2024.108476_bb0100","article-title":"Small RNAs are modified with N-glycans and displayed on the surface of living cells","volume":"184","author":"Flynn","year":"2021","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2024.108476_bb0105","article-title":"Imaging glycosylated RNAs at the subcellular scale","author":"Hristov","year":"2023","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ymgme.2024.108476_bb0110","article-title":"Cell surface RNAs control neutrophil recruitment","author":"Zhang","year":"2024","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2024.108476_bb0115","doi-asserted-by":"crossref","DOI":"10.1083\/jcb.202205038","article-title":"Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions","volume":"221","author":"Sosicka","year":"2022","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ymgme.2024.108476_bb0120","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1016\/j.cmet.2021.05.003","article-title":"Brain glycogen serves as a critical glucosamine cache required for protein glycosylation","volume":"33","author":"Sun","year":"2021","journal-title":"Cell Metab."},{"key":"10.1016\/j.ymgme.2024.108476_bb0125","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1016\/j.tem.2021.09.006","article-title":"Emerging roles of N-linked glycosylation in brain physiology and disorders","volume":"32","author":"Conroy","year":"2021","journal-title":"Trends Endocrinol. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719224003603?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719224003603?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T17:16:12Z","timestamp":1735233372000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719224003603"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S1096719224003603"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108476","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108476","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"108476"}}