{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:54:48Z","timestamp":1697648088753},"reference-count":0,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[1992,8,1]],"date-time":"1992-08-01T00:00:00Z","timestamp":712627200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1992,8]]},"DOI":"10.1007\/bf00221953","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T19:22:05Z","timestamp":1095189725000},"source":"Crossref","is-referenced-by-count":2,"title":["Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome"],"prefix":"10.1007","volume":"89","author":[{"given":"Ryszard","family":"Slomski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Braulke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Behrend","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Schr\ufffdder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Pierre","family":"Colombo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen","family":"Reiss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00221953.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00221953\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00221953","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T05:42:27Z","timestamp":1554788547000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00221953"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,8]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1992,8]]}},"alternative-id":["BF00221953"],"URL":"https:\/\/doi.org\/10.1007\/bf00221953","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,8]]}}}