{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:35:37Z","timestamp":1792643737405,"version":"4.5.0"},"reference-count":12,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,8,9]],"date-time":"2008-08-09T00:00:00Z","timestamp":1218240000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused by defects in the biosynthesis of <jats:italic>N<\/jats:italic>\u2010 or <jats:italic>O<\/jats:italic>\u2010glycans. Among the many different subtypes of CDG, the defect of a mannosyltransferase encoded by the human <jats:italic>ALG3<\/jats:italic> gene (chromosome 3q27) is known to cause CDG Id. Six patients with CDG Id have been described in the literature so far. We further delineate the clinical, biochemical, neuroradiological and molecular features of CDG Id by reporting an additional patient bearing a novel missense mutation in the <jats:italic>ALG3<\/jats:italic> gene. All patients with CDG Id display a slowly progressive encephalopathy with microcephaly, severe psychomotor retardation and epileptic seizures. They also share some typical dysmorphic features but they do not present the multisystem involvement observed in other CDG syndromes or any biological marker abnormalities. Unusually marked osteopenia is a feature in some patients and may remain undiagnosed until revealed by pathological fractures. Serum transferrin screening for CDG should be extended to all patients with encephalopathy of unknown origin, even in the absence of multisystem involvement.<\/jats:p>","DOI":"10.1007\/s10545-008-0959-x","type":"journal-article","created":{"date-parts":[[2008,8,4]],"date-time":"2008-08-04T21:14:05Z","timestamp":1217884445000},"page":"381-386","source":"Crossref","is-referenced-by-count":15,"title":["Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient"],"prefix":"10.1002","volume":"31","author":[{"given":"A.","family":"Rimella\u2010Le\u2010Huu","sequence":"first","affiliation":[{"name":"Division of Molecular Pediatrics University Hospital of Lausanne Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Henry","sequence":"additional","affiliation":[{"name":"Central Clinical Chemistry Laboratory University Hospital of Lausanne Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Kern","sequence":"additional","affiliation":[{"name":"Child Metabolic Unit University Hospital of Geneva Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Hanquinet","sequence":"additional","affiliation":[{"name":"Child Radiology Unit University Hospital of Geneva Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Roulet\u2010Perez","sequence":"additional","affiliation":[{"name":"Child Neurology Unit University Hospital of Lausanne Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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Decker 2 Lausanne 1011 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,8,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01015.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20026"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000169963.94378.B6"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2007.09.016"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.8.080706.092327"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.23.6816"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31796"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1136-0"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-979762"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.01.002"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0250"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0849-2"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0959-x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-0959-x","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0959-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:22:13Z","timestamp":1694751733000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0959-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,9]]},"references-count":12,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-0959-x"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0959-x","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,9]]}}}