{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T02:43:29Z","timestamp":1791773009829,"version":"4.3.4"},"reference-count":106,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T00:00:00Z","timestamp":1512086400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T00:00:00Z","timestamp":1512086400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T00:00:00Z","timestamp":1637712000000},"content-version":"vor","delay-in-days":1454,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1038\/gim.2017.101","type":"journal-article","created":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T11:01:32Z","timestamp":1501758092000},"page":"1380-1395","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":219,"title":["Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations"],"prefix":"10.1016","volume":"19","author":[{"given":"Jeffrey M","family":"Chinsky","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rani","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Ficicioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara D M","family":"van Karnebeek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Grompe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grant","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E","family":"Waisbren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muge","family":"Gucsavas-Calikoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa P","family":"Wasserstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Coakley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C Ronald","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2017.101_bb0010","series-title":"The Online Metabolic and Molecular Bases of Inherited Disease","article-title":"Hypertyrosinemia","author":"Mitchell","year":"2014"},{"key":"10.1038\/gim.2017.101_bb0015","author":"Mitchell"},{"key":"10.1038\/gim.2017.101_bb0020","author":"Castilloux"},{"key":"10.1038\/gim.2017.101_bb0025","author":"Weinberg"},{"key":"10.1038\/gim.2017.101_bb0030","author":"van Spronsen"},{"key":"10.1038\/gim.2017.101_bb0035","author":"Holme"},{"key":"10.1038\/gim.2017.101_bb0040","author":"Schady"},{"key":"10.1038\/gim.2017.101_bb0045","author":"De Jesus"},{"key":"10.1038\/gim.2017.101_bb0050","author":"Mayorandan"},{"key":"10.1038\/gim.2017.101_bb0055","author":"Schiff"},{"key":"10.1038\/gim.2017.101_bb0060","author":"de Laet"},{"key":"10.1038\/gim.2017.101_bb0065","author":"Singh"},{"key":"10.1038\/gim.2017.101_bb0070","author":"Vockley"},{"key":"10.1038\/gim.2017.101_bb0075","author":"Waggoner"},{"key":"10.1038\/gim.2017.101_bb0080","series-title":"Group Techniques for Program Planning: A Guide to Nominal Group and Delphi Processes","author":"Delbecq","year":"1975"},{"key":"10.1038\/gim.2017.101_bb0085","author":"Brouwers"},{"key":"10.1038\/gim.2017.101_bb0090","author":"Vockley"},{"key":"10.1038\/gim.2017.101_bb0095","author":"Maymone"},{"key":"10.1038\/gim.2017.101_bb0100","author":"Harbour"},{"key":"10.1038\/gim.2017.101_bb0105","author":"American Academy of Pediatrics Steering Committee on Quality I, Management"},{"key":"10.1038\/gim.2017.101_bb0110","author":"Lindblad"},{"key":"10.1038\/gim.2017.101_bb0115","author":"Lindstedt"},{"key":"10.1038\/gim.2017.101_bb0120","author":"Knox"},{"key":"10.1038\/gim.2017.101_bb0125","author":"Grompe"},{"key":"10.1038\/gim.2017.101_bb0130","author":"La Du"},{"key":"10.1038\/gim.2017.101_bb0135","author":"Grompe"},{"key":"10.1038\/gim.2017.101_bb0140","author":"Rehak"},{"key":"10.1038\/gim.2017.101_bb0145","author":"Bienfang"},{"key":"10.1038\/gim.2017.101_bb0150","author":"Endo"},{"key":"10.1038\/gim.2017.101_bb0155","author":"Jorquera"},{"key":"10.1038\/gim.2017.101_bb0160","author":"Ruppert"},{"key":"10.1038\/gim.2017.101_bb0165","author":"Larochelle"},{"key":"10.1038\/gim.2017.101_bb0170","author":"Watson"},{"key":"10.1038\/gim.2017.101_bb0175","author":"Grenier"},{"key":"10.1038\/gim.2017.101_bb0180","author":"Allard"},{"key":"10.1038\/gim.2017.101_bb0185","author":"Schulze"},{"key":"10.1038\/gim.2017.101_bb0190","author":"Magera"},{"key":"10.1038\/gim.2017.101_bb0195","author":"Turgeon"},{"key":"10.1038\/gim.2017.101_bb0200","author":"Stinton"},{"key":"10.1038\/gim.2017.101_bb0205","author":"Dimmock"},{"key":"10.1038\/gim.2017.101_bb0210","unstructured":"American College of Medical Genetics. Newborn Screening ACT Sheets and Confirmatory Algorithms. 2001. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK55827\/. Accessed 29 June 2016."},{"key":"10.1038\/gim.2017.101_bb0215","author":"Matern"},{"key":"10.1038\/gim.2017.101_bb0220","author":"Angileri"},{"key":"10.1038\/gim.2017.101_bb0225","author":"Grompe"},{"key":"10.1038\/gim.2017.101_bb0230","author":"Scriver"},{"key":"10.1038\/gim.2017.101_bb0235","author":"Laberge"},{"key":"10.1038\/gim.2017.101_bb0240","series-title":"Gene Reviews","article-title":"Tyrosinemia type I","author":"Sniderman King","year":"1993"},{"key":"10.1038\/gim.2017.101_bb0245","author":"Blackburn"},{"key":"10.1038\/gim.2017.101_bb0250","author":"Yang"},{"key":"10.1038\/gim.2017.101_bb0255","author":"Masurel-Paulet"},{"key":"10.1038\/gim.2017.101_bb0260","author":"Bartlett"},{"key":"10.1038\/gim.2017.101_bb0265","author":"Schlune"},{"key":"10.1038\/gim.2017.101_bb0270","author":"Santra"},{"key":"10.1038\/gim.2017.101_bb0275","unstructured":"CenterWatch. Orfadin (nitisinone). 2016.. http:\/\/www.centerwatch.com\/drug-information\/fda-approved-drugs\/drug\/765\/orfadin-nitisinone. Accessed 26 September 2016."},{"key":"10.1038\/gim.2017.101_bb0280","author":"Lock"},{"key":"10.1038\/gim.2017.101_bb0285","author":"El-Karaksy"},{"key":"10.1038\/gim.2017.101_bb0290","unstructured":"Neat JN, Wolff A, Kazmi F et al, In vitro inhibition and induction of human liver cytochrome P450 enzymes by NTBC and its metabolism in human liver microsomes: Poster 146. Annual Meeting of International Society for the Study of Xenobiotics (ISSX), 2009."},{"key":"10.1038\/gim.2017.101_bb0295","author":"Maiorana"},{"key":"10.1038\/gim.2017.101_bb0300","series-title":"Manual of Pediatric Nutrition","author":"Sonneville","year":"2014"},{"key":"10.1038\/gim.2017.101_bb0305","author":"Rampini"},{"key":"10.1038\/gim.2017.101_bb0310","series-title":"Dietary Reference Intakes: The Essential Guide to Nutrient Requirements","author":"Otten","year":"2006"},{"key":"10.1038\/gim.2017.101_bb0315","series-title":"Nutrition Management of Patients With Inherited Metabolic Disorders","first-page":"119","article-title":"Nutrition management of patients with inherited disorders of aromatic amino acid metabolism","author":"Acosta","year":"2010"},{"key":"10.1038\/gim.2017.101_bb0320","unstructured":"National Research Council (U.S.) Committee on Dietary Allowances Recommended Dietary Allowances. Nabu Press: Washington, DC, 2012."},{"key":"10.1038\/gim.2017.101_bb0325","series-title":"Protocol 3\u2014Tyrosinemia Types 1a and 1b Nutrition Support Protocols,","first-page":"49","author":"Lewis","year":"2001"},{"key":"10.1038\/gim.2017.101_bb0330","author":"Daly"},{"key":"10.1038\/gim.2017.101_bb0335","author":"Wilson"},{"key":"10.1038\/gim.2017.101_bb0340","unstructured":"Mayo Clinic. Test ID: PKU\u2014Phenylalanine and Tyrosine, Plasma. 2016.. http:\/\/www.mayomedicallaboratories.com\/test-catalog\/Clinical+and+Interpretive\/8380. Accessed 27 May 2016."},{"key":"10.1038\/gim.2017.101_bb0345","author":"Bay"},{"key":"10.1038\/gim.2017.101_bb0350","author":"Blohm"},{"key":"10.1038\/gim.2017.101_bb0355","author":"Gale"},{"key":"10.1038\/gim.2017.101_bb0360","author":"van Ginkel"},{"key":"10.1038\/gim.2017.101_bb0365","author":"van Spronsen"},{"key":"10.1038\/gim.2017.101_bb0370","author":"Zeybek"},{"key":"10.1038\/gim.2017.101_bb0375","author":"Neto"},{"key":"10.1038\/gim.2017.101_bb0380","author":"Dehghani"},{"key":"10.1038\/gim.2017.101_bb0385","author":"Mohan"},{"key":"10.1038\/gim.2017.101_bb0390","author":"Paradis"},{"key":"10.1038\/gim.2017.101_bb0395","author":"Arnon"},{"key":"10.1038\/gim.2017.101_bb0400","author":"Bartlett"},{"key":"10.1038\/gim.2017.101_bb0405","author":"Forget"},{"key":"10.1038\/gim.2017.101_bb0410","author":"Endo"},{"key":"10.1038\/gim.2017.101_bb0415","author":"Onenli Mungan"},{"key":"10.1038\/gim.2017.101_bb0420","author":"Thimm"},{"key":"10.1038\/gim.2017.101_bb0425","author":"De Laet"},{"key":"10.1038\/gim.2017.101_bb0430","author":"Bendadi"},{"key":"10.1038\/gim.2017.101_bb0435","first-page":"96","article-title":"Behavioral and intellectual functioning in patients with tyrosinemia type I","volume":"18","author":"Pohorecka","year":"2012","journal-title":"Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw"},{"key":"10.1038\/gim.2017.101_bb0440","author":"van Ginkel"},{"key":"10.1038\/gim.2017.101_bb0445","author":"Michalski"},{"key":"10.1038\/gim.2017.101_bb0450","author":"Tsai"},{"issue":"Supplement 1","key":"10.1038\/gim.2017.101_bb0455","first-page":"32","article-title":"Ophthalmic follow up in patients with tyrosinaemia type 1 on on NTBC","volume":"24","author":"Gissen","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"10.1038\/gim.2017.101_bb0460","author":"Ahmad"},{"key":"10.1038\/gim.2017.101_bb0465","author":"Schauwvlieghe"},{"key":"10.1038\/gim.2017.101_bb0470","doi-asserted-by":"crossref","unstructured":"Wisse RP, Wittebol-Post D, Visser G, van der Lelij A . Corneal depositions in tyrosinaemia type I during treatment with Nitisinone. BMJ Case Rep 2012;2012.","DOI":"10.1136\/bcr-2012-006301"},{"key":"10.1038\/gim.2017.101_bb0475","author":"Gissen"},{"key":"10.1038\/gim.2017.101_bb0480","author":"Holme"},{"key":"10.1038\/gim.2017.101_bb0485","author":"Lindblad"},{"key":"10.1038\/gim.2017.101_bb0490","author":"Arora"},{"key":"10.1038\/gim.2017.101_bb0495","author":"Andre"},{"key":"10.1038\/gim.2017.101_bb0500","author":"Mohamed"},{"key":"10.1038\/gim.2017.101_bb0505","author":"Perry"},{"key":"10.1038\/gim.2017.101_bb0510","author":"Carson"},{"key":"10.1038\/gim.2017.101_bb0515","author":"Russo"},{"key":"10.1038\/gim.2017.101_bb0520","author":"Vanclooster"},{"key":"10.1038\/gim.2017.101_bb0525","author":"Grompe"},{"key":"10.1038\/gim.2017.101_bb0530","author":"Garcia Segarra"},{"key":"10.1038\/gim.2017.101_bb0535","author":"Kassel"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim2017101.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim2017101","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021047651?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021047651?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/gim.2017.101","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/gim2017101.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:46:54Z","timestamp":1761097614000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021047651"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12]]},"references-count":106,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["S1098360021047651"],"URL":"https:\/\/doi.org\/10.1038\/gim.2017.101","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2017,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2017.101","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}