{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:03:44Z","timestamp":1761512624729,"version":"3.44.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2009,4,1]],"date-time":"2009-04-01T00:00:00Z","timestamp":1238544000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,4,1]],"date-time":"2009-04-01T00:00:00Z","timestamp":1238544000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Biochemistry"],"published-print":{"date-parts":[[2009,4]]},"DOI":"10.1016\/j.clinbiochem.2008.12.009","type":"journal-article","created":{"date-parts":[[2008,12,26]],"date-time":"2008-12-26T04:17:26Z","timestamp":1230265046000},"page":"521-527","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Determination of \u03b24-galactosyltransferase-7 activity using high-performance liquid chromatography\u2013electrospray ionization tandem mass spectrometry"],"prefix":"10.1016","volume":"42","author":[{"given":"Joachim","family":"Kuhn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Knut","family":"Kleesiek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"G\u00f6tting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clinbiochem.2008.12.009_bib1","doi-asserted-by":"crossref","first-page":"13751","DOI":"10.1016\/S0021-9258(18)89809-X","article-title":"Defective progressing of keratan sulfate in macular corneal dystrophy","volume":"259","author":"Nakazawa","year":"1984","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib2","doi-asserted-by":"crossref","first-page":"39788","DOI":"10.1074\/jbc.M103227200","article-title":"Altered fine structure of corneal and skeletal keratan sulfate and chondroitin\/dermatan sulfate in macular corneal dystrophy","volume":"276","author":"Plaas","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib3","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1086\/444401","article-title":"A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis","volume":"77","author":"Gleghorn","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib4","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1073\/pnas.87.4.1342","article-title":"A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from patient with progeroid syndrome","volume":"87","author":"Quentin","year":"1990","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib5","doi-asserted-by":"crossref","first-page":"28841","DOI":"10.1074\/jbc.274.41.28841","article-title":"Molecular basis for the progeroid variant of Ehlers\u2013Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene","volume":"274","author":"Okajima","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib6","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/S0304-4165(02)00406-3","article-title":"Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers\u2013Danlos syndrome: molecular cloning and identification of mutations","volume":"1573","author":"Furukawa","year":"2002","journal-title":"Biochem. Biophys. Acta"},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib7","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s00109-006-0046-4","article-title":"Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblast of an Ehlers\u2013Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7)","volume":"84","author":"Seidler","year":"2006","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib8","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1073\/pnas.56.6.1859","article-title":"Studies on biosynthesis of the linkage region of chondroitin sulfate\u2013protein complex","volume":"56","author":"Robinson","year":"1966","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib9","doi-asserted-by":"crossref","first-page":"2790","DOI":"10.1016\/S0021-9258(18)83464-0","article-title":"Biosynthesis of chondroitin sulfate. I. Galactosyltransferase in the formation of the carbohydrate\u2013protein linkage region","volume":"244","author":"Helting","year":"1969","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib10","doi-asserted-by":"crossref","first-page":"2799","DOI":"10.1016\/S0021-9258(18)83465-2","article-title":"Biosynthesis of chondroitin sulfate. II. Glucuronosyl transfer in the formation of the carbohydrate\u2013protein region","volume":"244","author":"Helting","year":"1969","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib11","doi-asserted-by":"crossref","first-page":"5200","DOI":"10.1016\/S0021-9258(19)41296-9","article-title":"Biosynthesis of chondroitin sulfate. Solubilization of chondroitin sulfate glycosyltransferases and partial purification of uridine diphosphate-d-galactose: d-xylose galactosyltransferase","volume":"250","author":"Schwartz","year":"1975","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib12","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/0165-022X(94)90049-3","article-title":"A method for determination of galactosyltransferase I activity synthesizing the proteoglycan linkage region","volume":"29","author":"Higuchi","year":"1994","journal-title":"J. Biochem. Biophys. Methods"},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib13","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/S0168-1656(03)00102-0","article-title":"High-density tissue-like cultivation of JAR choriocarcinoma cells for the in vitro production of human xylosyltransferase","volume":"103","author":"Kuhn","year":"2003","journal-title":"J. Biotechnol."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib14","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s10528-005-1068-2","article-title":"Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (\u03b24GalT-7) gene","volume":"43","author":"G\u00f6tte","year":"2005","journal-title":"Biochem. Genet."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib15","doi-asserted-by":"crossref","first-page":"48189","DOI":"10.1074\/jbc.M107339200","article-title":"Biosynthesis of the linkage region of glycosaminoglycans","volume":"51","author":"Bai","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib16","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1373\/clinchem.2006.071167","article-title":"Measurement of fibrosis marker xylosyltransferase I activity by HPLC electrospray ionization tandem mass spectrometry","volume":"52","author":"Kuhn","year":"2006","journal-title":"Clin. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib17","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/ajmg.a.30005","article-title":"A novel missense mutation in the galactosyltransferase I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers\u2013Danlos syndrome resembling the progeroid type","volume":"128","author":"Faiyaz-Ul-Haque","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib18","first-page":"436","article-title":"Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid","volume":"41","author":"Kresse","year":"1987","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib19","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1093\/hmg\/ddm372","article-title":"Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (\u03b24GalT-7) deficient form of Ehlers\u2013Danlos syndrome","volume":"17","author":"G\u00f6tte","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib20","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1093\/clinchem\/48.6.955","article-title":"Rapid liquid chromatography\u2013tandem mass spectrometry routine method for simultaneous determination of sirolimus, everolimus, tacrolimus and cyclosporin A in whole blood","volume":"48","author":"Streit","year":"2002","journal-title":"Clin. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib21","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1373\/clinchem.2004.039594","article-title":"Rapid and simple tandem mass spectrometric method for determination of serum cotinine concentration","volume":"50","author":"Kellogg","year":"2004","journal-title":"Clin. Chem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib22","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.clinbiochem.2005.11.009","article-title":"Rapid micro-scale assay for homocysteine by liquid chromatography\u2013tandem mass spectrometry","volume":"39","author":"Kuhn","year":"2006","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.clinbiochem.2008.12.009_bib23","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1258\/000456307781646012","article-title":"A rapid ultra performance liquid chromatography tandem mass spectrometry method for measuring amino acids associated with maple syrup urine disease, tyrosinaemia and phenylketonuria","volume":"44","author":"Freeto","year":"2007","journal-title":"Ann. Clin. Biochem."}],"container-title":["Clinical Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912008006322?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912008006322?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:28:56Z","timestamp":1757863736000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009912008006322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["S0009912008006322"],"URL":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2008.12.009","relation":{},"ISSN":["0009-9120"],"issn-type":[{"type":"print","value":"0009-9120"}],"subject":[],"published":{"date-parts":[[2009,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Determination of \u03b24-galactosyltransferase-7 activity using high-performance liquid chromatography\u2013electrospray ionization tandem mass spectrometry","name":"articletitle","label":"Article Title"},{"value":"Clinical Biochemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2008.12.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}