{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T13:01:34Z","timestamp":1761310894579},"publisher-location":"Boston, MA","reference-count":8,"publisher":"Springer US","isbn-type":[{"type":"print","value":"9781461361053"},{"type":"electronic","value":"9781461525844"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1995]]},"DOI":"10.1007\/978-1-4615-2584-4_71","type":"book-chapter","created":{"date-parts":[[2013,10,13]],"date-time":"2013-10-13T07:29:42Z","timestamp":1381649382000},"page":"331-335","source":"Crossref","is-referenced-by-count":3,"title":["Genetic and Clinical Heterogeneity in Hypoxanthine Phosphoribosyltransferase Deficiencies"],"prefix":"10.1007","author":[{"given":"Renate","family":"Burgemeister","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Gutensohn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Van den Berghe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Jaeken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"71_CR1","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1002\/pd.1970090309","volume":"9","author":"R Burgemeister","year":"1989","unstructured":"Burgemeister R, Gutensohn W (1989), Normal ranges of the activities of ten different enzymes in 100 independent preparations of chorionic villi. Comparison of specimens from induced abortions, biopsies, and cultured cells, Prenat Diagn 9: 195\u2013204.","journal-title":"Prenat Diagn"},{"key":"71_CR2","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1172\/JCI114160","volume":"84","author":"BL Davidson","year":"1989","unstructured":"Davidson BL, Tarl\u00e9 SA, Palella TD, Kelley WN (1989), Molecular basis of hypoxanthine-guanine phosphoribosyl-transferase deficiency in ten subjects determined by direct sequencing of amplified transcripts, J Clin Invest 84: 342\u2013346.","journal-title":"J Clin Invest"},{"key":"71_CR3","first-page":"951","volume":"48","author":"BL Davidson","year":"1991","unstructured":"Davidson BL, Tarl\u00e9 SA, van Antwerp M, Gibbs RA, Watts RWE, Kelley WN, Palella TD (1991), Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, Am J Hum Gen 48: 951\u2013958.","journal-title":"Am J Hum Gen"},{"key":"71_CR4","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1016\/0888-7543(90)90493-E","volume":"6","author":"A Edwards","year":"1990","unstructured":"Edwards A, Voss H, Rice P, Civitello A, Stegemann J, Schwager C, Zimmermann J, Erfle H, Caskey CT, Ansorge W (1990), Automated DNA sequencing of the human HPRT locus, Genomics 6: 593\u2013608.","journal-title":"Genomics"},{"key":"71_CR5","doi-asserted-by":"publisher","first-page":"1919","DOI":"10.1073\/pnas.86.6.1919","volume":"86","author":"RA Gibbs","year":"1989","unstructured":"Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey TC (1989), Identification of mutations leading to the Lesch-Nyhan-syndrome by automated direct DNA sequencing of in vitro amplified cDNA, Proc Natl Acad Sci (USA) 86: 1919\u20131923.","journal-title":"Proc Natl Acad Sci (USA)"},{"key":"71_CR6","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/0888-7543(90)90545-6","volume":"7","author":"RA Gibbs","year":"1990","unstructured":"Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT (1990), Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families, Genomics 7: 235\u2013244.","journal-title":"Genomics"},{"key":"71_CR7","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1007\/BF00194310","volume":"89","author":"S Marcus","year":"1992","unstructured":"Marcus S, Steen AM, Andersson B, Lambert B, Kristoffersson U, Francke U (1992), Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests, Hum Genet 89: 395\u2013400.","journal-title":"Hum Genet"},{"key":"71_CR8","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1016\/0888-7543(91)90341-B","volume":"10","author":"SA Tarl\u00e9","year":"1991","unstructured":"Tarl\u00e9 SA, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD (1991), Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects, Genomics 10: 499\u2013501.","journal-title":"Genomics"}],"container-title":["Advances in Experimental Medicine and Biology","Purine and Pyrimidine Metabolism in Man VIII"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4615-2584-4_71","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T11:18:40Z","timestamp":1558610320000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-1-4615-2584-4_71"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995]]},"ISBN":["9781461361053","9781461525844"],"references-count":8,"URL":"https:\/\/doi.org\/10.1007\/978-1-4615-2584-4_71","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"type":"print","value":"0065-2598"},{"type":"electronic","value":"2214-8019"}],"subject":[],"published":{"date-parts":[[1995]]}}}