{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,29]],"date-time":"2023-12-29T05:43:09Z","timestamp":1703828589466},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,9,27]],"date-time":"2006-09-27T00:00:00Z","timestamp":1159315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J of Urology"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:p><jats:bold>Abstract\u2002<\/jats:bold> Cystinuria is a hereditary disorder of cystine and dibasic amino acids (lysine, arginine, ornithine) transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. Cystine stones frequently occur in the second or third decade of life with an occasional occurrence in infancy and in old age. Herein is presented the case of a 1\u2010year\u2010old girl with cystinuria and recurrent urolithiasis; the genetic basis of the disease was investigated by mutational analysis of the <jats:italic>SLC3A1<\/jats:italic> gene. The data show that the present patient has an increased cystine (923.08\u2003\u00b5g\/mL) level and was heterozygote for M467T mutation.<\/jats:p>","DOI":"10.1111\/j.1442-2042.2006.01550.x","type":"journal-article","created":{"date-parts":[[2006,9,27]],"date-time":"2006-09-27T09:05:30Z","timestamp":1159347930000},"page":"1347-1349","source":"Crossref","is-referenced-by-count":1,"title":["Analysis of a 1\u2010year\u2010old cystinuric patient with recurrent renal stones"],"prefix":"10.1111","volume":"13","author":[{"given":"FATOS","family":"TANZER","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ARZU","family":"OZGUR","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FEVZI","family":"BARDAKCI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LEVENT","family":"CANKORKMAZ","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SEMIH","family":"AYAN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,9,27]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1955.tb01278.x"},{"key":"e_1_2_4_3_2","first-page":"4909","volume-title":"The Metabolic and Molecular Basis of Inherited Diseases","author":"Palacin M","year":"2001"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799576"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-420"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00240-004-0405-y"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799440"},{"key":"e_1_2_4_8_2","first-page":"110","article-title":"Molecular genetic anaylses of cystinuria type in 24 Turkish patients","volume":"43","author":"Dayanga\u00e7 D","year":"2001","journal-title":"Turk. J. Pediatr."},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00393.x"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002400100200"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.3181\/00379727-129-33461"}],"container-title":["International Journal of Urology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1442-2042.2006.01550.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1442-2042.2006.01550.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T17:20:12Z","timestamp":1696872012000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1442-2042.2006.01550.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,27]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1111\/j.1442-2042.2006.01550.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1442-2042.2006.01550.x","archive":["Portico"],"relation":{},"ISSN":["0919-8172","1442-2042"],"issn-type":[{"value":"0919-8172","type":"print"},{"value":"1442-2042","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,27]]}}}