{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T05:46:06Z","timestamp":1791179166130,"version":"4.1.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2000,6,1]],"date-time":"2000-06-01T00:00:00Z","timestamp":959817600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4796,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2000,6]]},"DOI":"10.1086\/302948","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:54Z","timestamp":1027709274000},"page":"1744-1756","source":"Crossref","is-referenced-by-count":157,"title":["A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency"],"prefix":"10.1016","volume":"66","author":[{"given":"Claudine M.","family":"De Praeter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerrit J.","family":"Gerwig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernst","family":"Bause","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lieve K.","family":"Nuytinck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes F.G.","family":"Vliegenthart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilhelm","family":"Breuer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannis P.","family":"Kamerling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc F.","family":"Espeel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques R.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora Wen Chun","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georges A.","family":"Dacremont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudy N.","family":"Van Coster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302948_bib2","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/j.1432-1033.1992.tb17207.x","article-title":"Effect of substrate structure on the activity of Man9-mannosidase from pig liver involved in N-linked oligosaccharide processing","volume":"208","author":"Bause","year":"1992","journal-title":"Eur J Biochem"},{"key":"10.1086\/302948_bib4","first-page":"639","article-title":"Purification and enzymatic properties of endo-\u03b1 1,2 mannosidase from pig liver involved in oligosaccharide processing","volume":"377","author":"Bause","year":"1996","journal-title":"Biol Chem"},{"key":"10.1086\/302948_bib1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1111\/j.1432-1033.1989.tb21096.x","article-title":"Purification and characterization of trimming glucosidase I from pig liver","volume":"183","author":"Bause","year":"1989","journal-title":"Eur J Biochem"},{"key":"10.1086\/302948_bib5","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/0003-2697(69)90251-6","article-title":"A simple colorimetric method for determination of protein","volume":"31","author":"Bramhall","year":"1969","journal-title":"Anal Biochem"},{"key":"10.1086\/302948_bib6","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/j.1750-3639.1998.tb00140.x","article-title":"Extracerebral biopsy in lysosomal and peroxisomal disorders: ultrastructural findings","volume":"8","author":"Ceuterick-de Groote","year":"1998","journal-title":"Brain Pathol"},{"key":"10.1086\/302948_bib7","first-page":"237","article-title":"Discordant light microscopic, electron microscopic, and in vitro contracture study findings in a family with central core disease","volume":"16","author":"De Cauwer","year":"1997","journal-title":"Clin Neuropathol"},{"key":"10.1086\/302948_bib8","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1006\/bbrc.1998.8385","article-title":"A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency","volume":"245","author":"de Koning","year":"1998","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/302948_bib9","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1056\/NEJM199212173272505","article-title":"Recurrent severe infections caused by a novel leukocyte adhesion deficiency","volume":"327","author":"Etzioni","year":"1992","journal-title":"N Engl J Med"},{"key":"10.1086\/302948_bib10","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1111\/j.1651-2227.1994.tb13166.x","article-title":"Carbohydrate-deficient glycoprotein syndrome with previously unreported features","volume":"83","author":"Eyskens","year":"1994","journal-title":"Acta Paediatr"},{"key":"10.1086\/302948_bib11","doi-asserted-by":"crossref","first-page":"3571","DOI":"10.1016\/S0021-9258(19)67833-6","article-title":"\u03b1-Glucosidase II-deficient cells use Endo \u03b1-Mannosidase as a bypass route for N-linked oligosaccharide processing","volume":"266","author":"Fujimoto","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1086\/302948_bib12","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/glycob\/1.1.9","article-title":"HEMPAS disease: genetic defect of glycosylation","volume":"1","author":"Fukuda","year":"1990","journal-title":"Glycobiology"},{"key":"10.1086\/302948_bib13","doi-asserted-by":"crossref","first-page":"26956","DOI":"10.1016\/S0021-9258(19)74203-3","article-title":"The nature of the carbohydrate-peptide linkage region in glycoproteins from the cellulosomes of clostridium thermocellum and bacteroides cellulosolvens","volume":"268","author":"Gerwig","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1086\/302948_bib14","series-title":"Glycobiology, a practical approach","first-page":"223","article-title":"Nuclear magnetic resonance spectroscopy of glycoprotein-derived carbohydrate chains","author":"H\u00e5rd","year":"1993"},{"key":"10.1086\/302948_bib15","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1515\/bchm.1997.378.9.1031","article-title":"Affinity purification and characterization of glucosidase II from pig liver","volume":"378","author":"Hentges","year":"1997","journal-title":"Biol Chem"},{"key":"10.1086\/302948_bib16","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1007\/BF01114896","article-title":"Inhibition by nojirimycin and deoxynojirimycin of microsomal glucosidases from calf liver acting on the glycoprotein oligosaccharides Glc1\u22123Man9GlcNAc2","volume":"2","author":"Hettkamp","year":"1982","journal-title":"Biosci Rep"},{"key":"10.1086\/302948_bib17","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1111\/j.1432-1033.1984.tb08253.x","article-title":"Purification by affinity chromatography of glucosidase I, an endoplasmic reticulum hydrolase involved in the processing of asparagine-linked oligosaccharides","volume":"142","author":"Hettkamp","year":"1984","journal-title":"Eur J Biochem"},{"key":"10.1086\/302948_bib18","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0009-8981(75)90119-9","article-title":"Oligosaccharides in urine of patients with glycoprotein storage disease. I. Rapid detection by thin-layer chromatography","volume":"60","author":"Humbel","year":"1975","journal-title":"Clin Chim Acta"},{"key":"10.1086\/302948_bib19","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1136\/adc.71.2.123","article-title":"Carbohydrate-deficient glycoprotein syndrome type II: a deficiency in Golgi-localised N-acetylglucosaminyltransferase II","volume":"71","author":"Jaeken","year":"1994","journal-title":"Arch Dis Child"},{"key":"10.1086\/302948_bib20","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1111\/j.1432-1033.1995.tb20706.x","article-title":"Cloning and expression of glucosidase I from human hippocampus","volume":"231","author":"Kalz-F\u00fcller","year":"1995","journal-title":"Eur J Biochem"},{"key":"10.1086\/302948_bib21","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1006\/geno.1996.0313","article-title":"Localization of the human glucosidase I gene to chromosome 2p12-p13 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids","volume":"34","author":"Kalz-F\u00fcller","year":"1996","journal-title":"Genomics"},{"key":"10.1086\/302948_bib22","first-page":"176","article-title":"Carbohydrates","volume":"Vol 1","author":"Kamerling","year":"1989"},{"key":"10.1086\/302948_bib23","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1177\/000456329903600103","article-title":"Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation","volume":"36","author":"Keir","year":"1999","journal-title":"Ann Clin Biochem"},{"key":"10.1086\/302948_bib25","doi-asserted-by":"crossref","first-page":"13200","DOI":"10.1073\/pnas.95.22.13200","article-title":"Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase","volume":"95","author":"Korner","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302948_bib26","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1172\/JCI3140","article-title":"Diseases of abnormal protein glycosylation: an emerging area","volume":"101","author":"Kornfeld","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1086\/302948_bib28","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/227680a0","article-title":"Cleavage of structural proteins during the assembly of the head of bacteriophage T4","volume":"227","author":"Laemmli","year":"1970","journal-title":"Nature"},{"key":"10.1086\/302948_bib29","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein determination by a modified Folin phenol method","volume":"193","author":"Lowry","year":"1951","journal-title":"J Biol Chem"},{"key":"10.1086\/302948_bib30","doi-asserted-by":"crossref","first-page":"3990","DOI":"10.1016\/S0021-9258(18)69024-6","article-title":"Evaluation of the role of rat liver golgi endo-\u03b1-D-mannosidase in processing N-linked oligosaccharides","volume":"263","author":"Lubas","year":"1988","journal-title":"J Biol Chem"},{"key":"10.1086\/302948_bib31","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/BF00711426","article-title":"Neuropathology of peroxisomal diseases","volume":"18","author":"Martin","year":"1995","journal-title":"J Inher Metab Dis"},{"key":"10.1086\/302948_bib32","volume":"Vol 29a","year":"1995"},{"key":"10.1086\/302948_bib33","article-title":"Glycoproteins II","volume":"Vol 29b","author":"Montreuil","year":"1996"},{"key":"10.1086\/302948_bib34","volume":"Vol 30","author":"Montreuil","year":"1996"},{"key":"10.1086\/302948_bib35","doi-asserted-by":"crossref","first-page":"13104","DOI":"10.1016\/S0021-9258(19)38272-9","article-title":"Demonstration that golgi endo-\u03b1-D-mannosidase provides a glucosidase-independent pathway for the formation of complex N-linked oligosaccharides of glycoproteins","volume":"265","author":"Moore","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1086\/302948_bib36","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1351\/pac198456070779","article-title":"Synthetic approach to glycan chains of a glycoprotein and a proteoglycan","volume":"56","author":"Ogawa","year":"1984","journal-title":"Pure Appl Chem"},{"key":"10.1086\/302948_bib37","series-title":"Diseases of the liver","first-page":"189","article-title":"Electron microscopy of human liver diseases","author":"Philipps","year":"1993"},{"key":"10.1086\/302948_bib38","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1172\/JCI110189","article-title":"Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5\u2032-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminyl phosphotransferase activity","volume":"67","author":"Reitman","year":"1981","journal-title":"J Clin Invest"},{"issue":"Suppl","key":"10.1086\/302948_bib40","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00711437","article-title":"Liver and chorion cytochemistry","volume":"18","author":"Roels","year":"1995","journal-title":"J Inher Metab Dis"},{"key":"10.1086\/302948_bib41","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/BF01048430","article-title":"Isolation and 1H-NMR spectroscopic identification of the glucose-containing lipid-linked precursor oligosaccharide of N-linked carbohydrate chains","volume":"4","author":"Ronin","year":"1987","journal-title":"Glycoconj J"},{"key":"10.1086\/302948_bib42","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1097\/00005792-199703000-00001","article-title":"Paroxysmal nocturnal haemoglobinuria as a molecular disease","volume":"76","author":"Rosse","year":"1997","journal-title":"Medicine"},{"key":"10.1086\/302948_bib43","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/S0008-6215(96)00242-X","article-title":"Synthesis of \u03b1-D-Glcp-(1\u21922)-\u03b1-D-Glcp-(1\u21923)-\u03b1-D-Glcp-O-(CH2)8COOCH3 for use in the assay of \u03b1-glucosidase I activity","volume":"296","author":"Scaman","year":"1996","journal-title":"Carbohydr Res"},{"key":"10.1086\/302948_bib44","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1042\/bj2470555","article-title":"Purification and characterization of glucosidase I involved in N-linked glycoprotein processing in bovine mammary gland","volume":"247","author":"Schailubhai","year":"1987","journal-title":"Biochem J"},{"key":"10.1086\/302948_bib45","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0003-9861(86)90429-7","article-title":"Characterization of calf liver glucosidase I and its inhibition by basic sugar analogs","volume":"248","author":"Schweden","year":"1986","journal-title":"Arch Biochem Biophys"},{"key":"10.1086\/302948_bib47","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1111\/j.1432-1033.1986.tb09703.x","article-title":"Purification and characterization of a neutral processing mannosidase from calf liver acting on Man9GlcNAc2 oligosaccharides","volume":"157","author":"Schweden","year":"1986","journal-title":"Eur J Biochem"},{"key":"10.1086\/302948_bib49","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/0014-5793(95)01357-1","article-title":"Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome","volume":"377","author":"Van Schaftingen","year":"1995","journal-title":"FEBS Lett"},{"key":"10.1086\/302948_bib50","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0065-2318(08)60059-1","article-title":"High-resolution, 1H-nuclear magnetic resonance spectroscopy as a tool in the structural analysis of carbohydrates related to glycoproteins","volume":"41","author":"Vliegenthart","year":"1983","journal-title":"Adv Carbohydr Chem Biochem"},{"key":"10.1086\/302948_bib3","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/0014-5793(86)80982-6","article-title":"Purification and characterization of trimming glucosidase I from Saccharomyces cerevisiae","volume":"206","author":"Bause","year":"1995","journal-title":"FEBS Lett"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707635277?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707635277?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T06:22:51Z","timestamp":1621232571000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707635277"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,6]]},"references-count":45,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2000,6]]}},"alternative-id":["S0002929707635277"],"URL":"https:\/\/doi.org\/10.1086\/302948","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,6]]}}}