{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T03:56:31Z","timestamp":1720583791420},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Chromatography B"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.jchromb.2014.11.010","type":"journal-article","created":{"date-parts":[[2014,11,24]],"date-time":"2014-11-24T02:01:25Z","timestamp":1416794485000},"page":"55-60","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Hydrophilic-interaction liquid chromatography\u2013tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine\u2013guanine phosphoribosyltransferase deficiency"],"prefix":"10.1016","volume":"976-977","author":[{"given":"Hiroshi","family":"Hasegawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiko","family":"Shinohara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sayako","family":"Nozaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makiko","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koei","family":"Oh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Namiki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyotaka","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiko","family":"Nakahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Miyazawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Himeno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sayaka","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Ueda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasukazu","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimiyoshi","family":"Ichida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jchromb.2014.11.010_bib0005","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1093\/brain\/awt202","article-title":"Genotype\u2013phenotype correlations in neurogenetics: Lesch\u2013Nyhan disease as a model disorder","volume":"137","author":"Fu","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.jchromb.2014.11.010_bib0010","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/0002-9343(64)90104-4","article-title":"A familial disorder of uric acid metabolism and central nervous system function","volume":"36","author":"Lesch","year":"1964","journal-title":"Am. J. Med."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0015","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1073\/pnas.57.6.1735","article-title":"A specific enzyme defect in gout associated with overproduction of uric acid","volume":"57","author":"Kelley","year":"1967","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0020","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/0026-0495(74)90041-9","article-title":"Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine\u2013guanine phosphoribosyltransferase deficiency","volume":"23","author":"Gordon","year":"1974","journal-title":"Metabolism"},{"key":"10.1016\/j.jchromb.2014.11.010_bib0025","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/0887-8994(86)90025-1","article-title":"Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency","volume":"2","author":"Hersh","year":"1986","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0030","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/BF02263652","article-title":"Hypoxanthine\u2013guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity","volume":"4","author":"Page","year":"1981","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0035","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1007\/BF01799493","article-title":"HPRT-deficiency associated with normal PRPP concentration and APRT activity","volume":"10","author":"Gordon","year":"1987","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0040","first-page":"851","article-title":"Kelley\u2013Seegmiller syndrome in a patient with complete hypoxanthine\u2013guanine phosphoribosyltransferase deficiency","volume":"20","author":"Cossu","year":"2002","journal-title":"Clin. Exp. Rheumatol."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0045","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1172\/JCI108430","article-title":"Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia","volume":"57","author":"Holland","year":"1976","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0050","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/BF00271165","article-title":"Partial hypoxanthine\u2013guanine phosphoribosyl transferase deficiency with full expression of the Lesch\u2013Nyhan syndrome","volume":"57","author":"Rijksen","year":"1981","journal-title":"Hum. Genet."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0055","doi-asserted-by":"crossref","first-page":"2997","DOI":"10.1074\/jbc.M111.317701","article-title":"Genotype\u2013phenotype correlations in Lesch\u2013Nyhan disease: moving beyond the gene","volume":"287","author":"Fu","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0060","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1172\/JCI112275","article-title":"A molecular survey of hypoxanthine\u2013guanine phosphoribosyltransferase deficiency in man","volume":"77","author":"Wilson","year":"1986","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0065","doi-asserted-by":"crossref","first-page":"424","DOI":"10.7326\/0003-4819-74-3-424","article-title":"Phosphoribosylpyrophosphate in man: biochemical and clinical significance","volume":"74","author":"Fox","year":"1971","journal-title":"Ann. Intern. Med."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0070","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/0002-9343(73)90174-5","article-title":"Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity","volume":"55","author":"Becker","year":"1973","journal-title":"Am. J. Med."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0075","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/0003-2697(87)90512-4","article-title":"A coupled optical assay for adenine phosphoribosyltransferase and its extension for the spectrophotometric and radioenzymatic determination of 5-phosphoribosyl-1-pyrophosphate in mixtures and in tissue extracts","volume":"164","author":"Ipata","year":"1987","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0080","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/0003-2697(90)90438-F","article-title":"Radiometric measurement of phosphoribosylpyrophosphate and ribose 5-phosphate by enzymatic procedures","volume":"187","author":"King","year":"1990","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0085","first-page":"1021","article-title":"Simpler method for the determination of 5-phosphoribosyl-1-pyrophosphate in red blood cells","volume":"79","author":"Sperling","year":"1972","journal-title":"J. Lab. Clin. Med."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0090","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0009-8981(77)90308-4","article-title":"A simple and sensitive method for estimating the concentration and synthesis of 5-phosphoribosyl 1-pyrophosphate in red blood cells","volume":"78","author":"Tax","year":"1977","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jchromb.2014.11.010_bib0095","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1080\/15257770.2011.616565","article-title":"Simultaneous determination of purine and pyrimidine metabolites in Hprt-deficient cell lines","volume":"30","author":"Yamaoka","year":"2011","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.jchromb.2014.11.010_bib0100","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.ymgme.2006.08.013","article-title":"Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations","volume":"90","author":"Yamada","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0105","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1080\/15257770.2011.603714","article-title":"Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population","volume":"30","author":"Yamada","year":"2011","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.jchromb.2014.11.010_bib0110","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1080\/15257770.2013.865743","article-title":"Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration","volume":"33","author":"Yamada","year":"2014","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.jchromb.2014.11.010_bib0115","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.chroma.2006.05.019","article-title":"Separation and quantitation of water soluble cellular metabolites by hydrophilic interaction chromatography\u2013tandem mass spectrometry","volume":"1125","author":"Bajad","year":"2006","journal-title":"J. Chromatogr. A"},{"key":"10.1016\/j.jchromb.2014.11.010_bib0120","first-page":"712A","article-title":"Limit of detection: a closer look at the IUPAC definition","volume":"55","author":"Long","year":"1983","journal-title":"Anal. Chem."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0125","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1172\/JCI108282","article-title":"Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction","volume":"57","author":"Becker","year":"1976","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0130","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/0003-2697(87)90056-X","article-title":"A method for the determination of 5-phosphoribosyl 1-pyrophosphate concentrations in erythrocytes using high-performance liquid chromatography","volume":"160","author":"Rylance","year":"1987","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0135","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0006-2944(80)90036-8","article-title":"Phosphoribosylpyrophosphate and enzymes of purine metabolism in erythrocytes from young hyperuricemic males","volume":"23","author":"van Maris","year":"1980","journal-title":"Biochem. Med."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0140","first-page":"951","article-title":"Identification of 17 independent mutations responsible for human hypoxanthine\u2013guanine phosphoribosyltransferase (HPRT) deficiency","volume":"48","author":"Davidson","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jchromb.2014.11.010_bib0145","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1007\/s004390050300","article-title":"An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans","volume":"99","author":"Fujimori","year":"1997","journal-title":"Hum. Genet."}],"container-title":["Journal of Chromatography B"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1570023214007065?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1570023214007065?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,27]],"date-time":"2018-09-27T09:26:23Z","timestamp":1538040383000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1570023214007065"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":29,"alternative-id":["S1570023214007065"],"URL":"https:\/\/doi.org\/10.1016\/j.jchromb.2014.11.010","relation":{},"ISSN":["1570-0232"],"issn-type":[{"value":"1570-0232","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hydrophilic-interaction liquid chromatography\u2013tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine\u2013guanine phosphoribosyltransferase deficiency","name":"articletitle","label":"Article Title"},{"value":"Journal of Chromatography B","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jchromb.2014.11.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}