{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T21:29:04Z","timestamp":1763414944206,"version":"3.44.0"},"reference-count":19,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","metabolismjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Metabolism"],"published-print":{"date-parts":[[2005,12]]},"DOI":"10.1016\/j.metabol.2005.06.009","type":"journal-article","created":{"date-parts":[[2005,11,29]],"date-time":"2005-11-29T07:41:32Z","timestamp":1133250092000},"page":"1615-1619","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13"],"prefix":"10.1016","volume":"54","author":[{"given":"Junji","family":"Takaya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miharu","family":"Ushikai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayako","family":"Tabata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachiko","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumiko","family":"Yamato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeyori","family":"Saheki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yohnosuke","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.metabol.2005.06.009_bib1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/9667","article-title":"The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein","volume":"22","author":"Kobayashi","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.metabol.2005.06.009_bib2","doi-asserted-by":"crossref","first-page":"5060","DOI":"10.1093\/emboj\/20.18.5060","article-title":"Citrin and aralar 1 are Ca2+-stimulated aspartate\/glutamate transporters in mitochondria","volume":"20","author":"Palmieri","year":"2001","journal-title":"EMBO J"},{"key":"10.1016\/j.metabol.2005.06.009_bib3","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1007\/s004390000430","article-title":"Identification of two novel mutations in SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia","volume":"107","author":"Yasuda","year":"2000","journal-title":"Hum Genet"},{"key":"10.1016\/j.metabol.2005.06.009_bib4","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/humu.10022","article-title":"Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis method for nine mutations","volume":"19","author":"Yamaguchi","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.metabol.2005.06.009_bib5","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S1096-7192(02)00167-1","article-title":"Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids","volume":"77","author":"Ben-Shalom","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2005.06.009_bib6","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/S1096-7192(03)00140-9","article-title":"Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations","volume":"80","author":"Kobayashi","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2005.06.009_bib7","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1016\/j.ymgme.2004.01.006","article-title":"Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle","volume":"81","author":"Saheki","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2005.06.009_bib8","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.ymgme.2004.06.018","article-title":"Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients","volume":"83","author":"Tazawa","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2005.06.009_bib9","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s100380200046","article-title":"Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)","volume":"47","author":"Saheki","year":"2002","journal-title":"J Hum Genet"},{"key":"10.1016\/j.metabol.2005.06.009_bib10","series-title":"Calcium: the molecular basis of calcium action in biology and medicine","first-page":"565","article-title":"Type II citrullinemia (citrin deficiency): a mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein.","author":"Kobayashi","year":"2000"},{"key":"10.1016\/j.metabol.2005.06.009_bib11","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/00007890-200101150-00027","article-title":"Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor","volume":"71","author":"Kasahara","year":"2001","journal-title":"Transplantation"},{"key":"10.1016\/j.metabol.2005.06.009_bib12","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s004390000448","article-title":"Neonatal presentation of adult-onset type II citrullinemia","volume":"108","author":"Ohura","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.metabol.2005.06.009_bib13","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1067\/mpd.2001.113264","article-title":"Infantile cholestatic jaundice associated with adult-onset type II citrullinemia","volume":"138","author":"Tazawa","year":"2001","journal-title":"J Pediatr"},{"key":"10.1016\/j.metabol.2005.06.009_bib14","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1067\/mpd.2001.113361","article-title":"Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy","volume":"138","author":"Tomomasa","year":"2001","journal-title":"J Pediatr"},{"key":"10.1016\/j.metabol.2005.06.009_bib15","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1007\/s00431-002-1045-2","article-title":"Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation","volume":"161","author":"Tamamori","year":"2002","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.metabol.2005.06.009_bib16","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s00431-003-1171-5","article-title":"A novel inborn error of metabolism detected by elevated methionine and\/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency","volume":"162","author":"Ohura","year":"2003","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.metabol.2005.06.009_bib17","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1203\/01.PDR.0000139713.64264.BC","article-title":"Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency","volume":"56","author":"Tamamori","year":"2004","journal-title":"Pediatr Res"},{"key":"10.1016\/j.metabol.2005.06.009_bib18","doi-asserted-by":"crossref","first-page":"129","DOI":"10.3164\/jcbn.1.129","article-title":"Serum amino acid pattern of type II citrullinemic patients and effect of oral administration of citrulline","volume":"1","author":"Saheki","year":"1986","journal-title":"J Clin Biochem Nutr"},{"key":"10.1016\/j.metabol.2005.06.009_bib19","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1128\/MCB.24.2.527-536.2004","article-title":"Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia","volume":"24","author":"Sinasac","year":"2004","journal-title":"Mol Cell Biol"}],"container-title":["Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0026049505002581?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0026049505002581?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T03:03:13Z","timestamp":1758423793000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0026049505002581"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12]]},"references-count":19,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["S0026049505002581"],"URL":"https:\/\/doi.org\/10.1016\/j.metabol.2005.06.009","relation":{},"ISSN":["0026-0495"],"issn-type":[{"type":"print","value":"0026-0495"}],"subject":[],"published":{"date-parts":[[2005,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13","name":"articletitle","label":"Article Title"},{"value":"Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.metabol.2005.06.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}