{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T06:09:29Z","timestamp":1655878169711},"reference-count":8,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1016\/j.braindev.2014.01.006","type":"journal-article","created":{"date-parts":[[2014,2,3]],"date-time":"2014-02-03T07:45:42Z","timestamp":1391413542000},"page":"921-923","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child"],"prefix":"10.1016","volume":"36","author":[{"given":"Ibtihel","family":"Rebai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichraf","family":"Kraoua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanene","family":"Benrhouma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aida","family":"Rouissi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilhem","family":"Turki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ir\u00e8ne","family":"Ceballos-Picot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neziha","family":"Gouider-Khouja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2014.01.006_b0005","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1038\/ejhg.2010.109","article-title":"Clinical utility gene card for: Lesch-Nyhan syndrome","volume":"19","author":"Torres","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.braindev.2014.01.006_b0010","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/1750-1172-2-48","article-title":"Hypoxanthine\u2013guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome","volume":"2","author":"Torres","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.braindev.2014.01.006_b0015","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1080\/15257770802135745","article-title":"Lesch Nyhan disease","volume":"27","author":"Nyhan","year":"2008","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.braindev.2014.01.006_b0020","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/0009-8981(68)90152-6","article-title":"Purine phosphoribosyltransferase activity of human erythrocytes: technic of determination","volume":"20","author":"Cartier","year":"1968","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.braindev.2014.01.006_b0025","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/0-306-46843-3_4","article-title":"The spectrum of hypoxanthine\u2013guanine phosphoribosyltransferase (HPRT) deficiency","volume":"486","author":"Puig","year":"2000","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.braindev.2014.01.006_b0030","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S1383-5742(00)00052-1","article-title":"The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases","volume":"463","author":"Jinnah","year":"2000","journal-title":"Mutat Res"},{"key":"10.1016\/j.braindev.2014.01.006_b0035","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1093\/hmg\/ddp164","article-title":"Hypoxanthine\u2013guanine phosphoribosyltransferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis","volume":"18","author":"Ceballos-Picot","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2014.01.006_b0040","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1002\/mds.23478","article-title":"Levodopa is not a useful treatment for Lesch-Nyhan disease","volume":"26","author":"Visser","year":"2011","journal-title":"Mov Disord"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760414000096?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760414000096?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,6]],"date-time":"2018-10-06T22:54:54Z","timestamp":1538866494000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760414000096"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":8,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["S0387760414000096"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2014.01.006","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2014,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2014.01.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}