{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T02:19:21Z","timestamp":1725502761702},"edition-number":"1","reference-count":17,"publisher":"Wiley","isbn-type":[{"type":"print","value":"9780470016176"},{"type":"electronic","value":"9780470015902"}],"license":[{"start":{"date-parts":[[2007,7,16]],"date-time":"2007-07-16T00:00:00Z","timestamp":1184544000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2007,7,16]],"date-time":"2007-07-16T00:00:00Z","timestamp":1184544000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>\n            Ornithine transcarbamylase deficiency, the most common urea cycle disorder, is an X\u2010linked trait displaying large phenotypic heterogeneity, which includes cases of symptomatic heterozygotes and wide mutational spectrum. Moreover,\n            <jats:italic>de novo<\/jats:italic>\n            mutations are common, particularly in the male gametogenesis, being responsible for as much as three\u2010fourth of female abnormal chromosomes. Recurrent mutations found in different human populations are associated with hypermutable CpG dinucleotides. These features render diagnosis, genetic counselling and treatment particularly difficult. The responsible gene is, however, an excellent model for research on human mutation, due to (a) the mode of transmission (allowing direct haplotype ascertainment and evaluation of the role of recombination, which occurs only in females) and (b) the abundance and diversity of mutations. Treatment strategies involve reduction of protein level intake and stimulation of alternative metabolic pathways or liver transplantation.\n          <\/jats:p>","DOI":"10.1002\/9780470015902.a0005942","type":"other","created":{"date-parts":[[2007,10,16]],"date-time":"2007-10-16T15:58:35Z","timestamp":1192550315000},"source":"Crossref","is-referenced-by-count":0,"title":["Ornithine Transcarbamylase Deficiency: Genetics"],"prefix":"10.1002","author":[{"given":"Lu\u00edsa","family":"Azevedo","sequence":"first","affiliation":[]},{"given":"Ant\u00f3nio","family":"Amorim","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2007,7,16]]},"reference":[{"key":"e_1_2_7_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00019-2"},{"key":"e_1_2_7_1_3_1","first-page":"1187","volume-title":"The Molecular and Metabolic Bases of Inherited Disease","author":"Brusilow SW","year":"1995"},{"key":"e_1_2_7_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a122265"},{"key":"e_1_2_7_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6494904"},{"key":"e_1_2_7_1_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.10.3.1180"},{"key":"e_1_2_7_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-2277.2001.tb00041.x"},{"key":"e_1_2_7_1_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/10430340152712719"},{"key":"e_1_2_7_1_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3540501"},{"key":"e_1_2_7_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20339"},{"key":"e_1_2_7_1_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1998.5440415.x"},{"key":"e_1_2_7_2_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a121764"},{"key":"e_1_2_7_2_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(86)90466-6"},{"key":"e_1_2_7_2_4_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.111318"},{"key":"e_1_2_7_2_5_1","first-page":"191","article-title":"Ornithine transcarbamylase deficiency: new sites with increased probability of mutation","volume":"95","author":"Oppliger Leibundgut EO","year":"1995","journal-title":"Human Genetics"},{"key":"e_1_2_7_2_6_1","first-page":"289","article-title":"Polymorphisms in the human ornithine transcarbamylase gene useful for allele tracking. Mutations in brief no. 193","volume":"12","author":"Plante RJ","year":"1998","journal-title":"Human Mutation"},{"volume-title":"Ornithine transcarbamylase: basic science and clinical considerations","year":"2003","author":"Snodgrass PJ","key":"e_1_2_7_2_7_1"},{"key":"e_1_2_7_2_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02185751"}],"container-title":["Encyclopedia of Life Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/9780470015902.a0005942","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/9780470015902.a0005942","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/9780470015902.a0005942","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T09:19:46Z","timestamp":1704187186000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/9780470015902.a0005942"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,16]]},"ISBN":["9780470016176","9780470015902"],"references-count":17,"alternative-id":["10.1002\/9780470015902.a0005942","10.1002\/047001590X"],"URL":"https:\/\/doi.org\/10.1002\/9780470015902.a0005942","archive":["Portico"],"relation":{},"subject":[],"published":{"date-parts":[[2007,7,16]]}}}