{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:39:40Z","timestamp":1792805980195,"version":"4.5.0"},"reference-count":14,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T00:00:00Z","timestamp":1576195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Alexandre Suerman Stipend of the University Medical Centre Utrecht"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2020,3]]},"DOI":"10.1016\/j.ymgmr.2019.100551","type":"journal-article","created":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T05:38:20Z","timestamp":1577425100000},"page":"100551","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio"],"prefix":"10.1016","volume":"22","author":[{"given":"H.A.","family":"Haijes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hubertus C.M.T.","family":"Prinsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique G.M.","family":"de Sain-van der Velden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanda M.","family":"Verhoeven-Duif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M.","family":"van Hasselt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith J.M.","family":"Jans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2019.100551_bb0005","series-title":"Laboratory Guide to the Methods in Biochemical Genetics","author":"Blau","year":"2008"},{"issue":"6","key":"10.1016\/j.ymgmr.2019.100551_bb0010","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1002\/iub.210","article-title":"The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition","volume":"61","author":"Br\u00f6er","year":"2009","journal-title":"IUBMB Life"},{"issue":"8","key":"10.1016\/j.ymgmr.2019.100551_bb0015","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1038\/sj.ki.5002790","article-title":"Aminoacidurias: clinical and molecular aspects","volume":"73","author":"Camargo","year":"2008","journal-title":"Kidney Int."},{"issue":"5","key":"10.1016\/j.ymgmr.2019.100551_bb0020","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.pediatrneurol.2010.01.009","article-title":"Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder","volume":"42","author":"Cheon","year":"2010","journal-title":"Pediatr. Neurol."},{"issue":"1","key":"10.1016\/j.ymgmr.2019.100551_bb0025","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.pcl.2018.09.002","article-title":"Fanconi syndrome","volume":"66","author":"Foreman","year":"2019","journal-title":"Pediatr. Clin. N. Am."},{"issue":"11","key":"10.1016\/j.ymgmr.2019.100551_bb0030","doi-asserted-by":"crossref","DOI":"10.3390\/ijms19113597","article-title":"Development of biomarkers for inhibition of SLC6A19 (B0AT1)-a potential target to treat metabolic disorders","volume":"19","author":"Javed","year":"2018","journal-title":"Int. J. Mol. Sci."},{"issue":"9","key":"10.1016\/j.ymgmr.2019.100551_bb0035","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng1405","article-title":"Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder","volume":"36","author":"Kleta","year":"2004","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.ymgmr.2019.100551_bb0040","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.2215\/CJN.02880608","article-title":"Fanconi or not Fanconi? Lowe syndrome revisited","volume":"3","author":"Kleta","year":"2008","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgmr.2019.100551_bb0045","series-title":"The Metabolic and Molecular Bases of Inherited Diseases","article-title":"Hartnup disorder","author":"Levy","year":"2001"},{"issue":"6","key":"10.1016\/j.ymgmr.2019.100551_bb0055","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1023\/A:1021286714582","article-title":"Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5","volume":"25","author":"Potter","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.ymgmr.2019.100551_bb0060","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1152\/ajprenal.00286.2005","article-title":"Luminal kidney and intestine SLC6 amino acid transporters of B0AT-cluster and their tissue distribution in Mus musculus","volume":"209","author":"Romeo","year":"2006","journal-title":"Am J Phsyiol Renal Physiol"},{"issue":"9","key":"10.1016\/j.ymgmr.2019.100551_bb0065","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1038\/ng1406","article-title":"Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19","volume":"36","author":"Seow","year":"2004","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2019.100551_bb0070","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1136\/adc.52.1.38","article-title":"Natural history of Hartnup disease","volume":"51","author":"Wilcken","year":"1977","journal-title":"Arch. Dis. Child."},{"issue":"226","key":"10.1016\/j.ymgmr.2019.100551_bb0075","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1136\/adc.42.226.642","article-title":"Observations on nicotinic acid therapy in Hartnup disease","volume":"42","author":"Wong","year":"1967","journal-title":"Arch. Dis. Child."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426919301715?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426919301715?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:50:52Z","timestamp":1762001452000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426919301715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3]]},"references-count":14,"alternative-id":["S2214426919301715"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2019.100551","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2020,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2019.100551","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100551"}}