{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T21:41:39Z","timestamp":1698010899444},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":5925,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1989,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Our experience with the prenatal detection of the Lesch\u2010Nyhan syndrome (LNS; hypoxanthine\u2010guanine phosphoribosyltransferase (HGPRT) deficiency) in three fetuses at risk is reported. Enzyme activities were measured in cultured amniocytes in two pregnancies, and in tissues and cultures obtained from chorionic villus sampling (CVS) in a third pregnancy. In all tissues the specific activities of HGPRT and adenine phosphoribosyltransferase (APRT) were determined and APRT\/HGPRT ratios were calculated. In addition to the enzyme assays, the rate of purine synthesis <jats:italic>de novo<\/jats:italic> was assessed in the two amniocyte cultures, and the rate of [<jats:sup>14<\/jats:sup>C]hypoxanthine incorporation into nucleotides and sensitivity to azaguanine were measured in one of the amniocyte cultures. We report the diagnosis of normal fetuses by study of amniocytes in two pregnancies and of LNS using CVS in one pregnancy. In all three cases the diagnosis was confirmed.<\/jats:p>","DOI":"10.1002\/pd.1970090909","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T03:39:06Z","timestamp":1172979546000},"page":"657-661","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis of Lesch\u2010Nyhan syndrome: Experience with three fetuses at risk"],"prefix":"10.1002","volume":"9","author":[{"given":"E.","family":"Zoref\u2010Shani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Bromberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Goldman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Shaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Barkai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Legum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Sperling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"55","article-title":"Lesch\u2010Nyhan syndrome: biochemical characterization of a case with attenuated behavioural manifestation","volume":"31","author":"Fattal A.","year":"1984","journal-title":"Enzyme"},{"key":"e_1_2_1_3_1","first-page":"596","article-title":"Detection of females heterozygous for the Lesch\u2010Nyhan mutation by 8\u2010azaguanine resistant growth of cultured fibroblasts","volume":"77","author":"Felix J. 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