{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:41:50Z","timestamp":1790430110339,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,1,25]],"date-time":"2008-01-25T00:00:00Z","timestamp":1201219200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We describe a retrospective study of long\u2010term outcome of 46 patients treated and regularly followed in France with 2\u2010(2\u2010nitro\u20104\u2010trifluoromethylbenzoyl)\u20101, 3\u2010cyclohexanedione (NTBC) for tyrosinaemia type I. Most had initial good response with normalization of liver function and metabolic parameters. Only one infant had no response to treatment and required liver transplantation. Among the 45 long\u2010term treated patients, three underwent secondary liver transplantation: one for cirrhosis and two because of hepatocellular carcinoma. One of the latter died of transplantation complications, so that the overall survival rate was 97.5%. However, 17 of 45 showed persistent abnormal liver imaging (heterogeneous liver) and 6 had cirrhosis. Furthermore, 15 had persistently elevated levels of alpha\u2010fetoprotein, highlighting the question of the persistent risk of carcinoma. Quality of life was usually good but compliance problems were frequent, mainly regarding the low phenylalanine\u2013tyrosine diet. Few adverse effects were observed. A main concern was the high frequency of cognitive impairment causing schooling problems, which may be related to persistent chronic hypertyrosinaemia. In conclusion, this series confirms that NTBC treatment has clearly improved the vital prognosis and quality of life of tyrosinaemia type I patients but that many late complications persist. Long\u2010term studies are necessary to determine whether this drug may prevent or only delay liver complications, andto survey the possible risks of the drug. A more restricted diet could be necessary to prevent the neurological impact of the disease.<\/jats:p>","DOI":"10.1007\/s10545-008-0793-1","type":"journal-article","created":{"date-parts":[[2008,1,23]],"date-time":"2008-01-23T21:30:01Z","timestamp":1201123801000},"page":"81-87","source":"Crossref","is-referenced-by-count":176,"title":["NTBC treatment in tyrosinaemia type I: Long\u2010term outcome in French patients"],"prefix":"10.1002","volume":"31","author":[{"given":"A.","family":"Masurel\u2010Paulet","sequence":"first","affiliation":[{"name":"Pediatric Department H\u00f4pital d'Enfants Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Poggi\u2010Bach","sequence":"additional","affiliation":[{"name":"Biochemistry Department H\u00f4pital Bic\u00e8tre Le Kremlin\u2010Bic\u00e8tre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u2010O.","family":"Rolland","sequence":"additional","affiliation":[{"name":"Biochemistry Department H\u00f4pital Debrousse Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Bernard","sequence":"additional","affiliation":[{"name":"Hepatology Department H\u00f4pital Bic\u00e8tre Le Kremlin\u2010Bic\u00e8tre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Guffon","sequence":"additional","affiliation":[{"name":"Metabolic Unit H\u00f4pital Edouard Herriot Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Dobbelaere","sequence":"additional","affiliation":[{"name":"Metabolic Unit H\u00f4pital Jeanne de Flandre Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Sarles","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit H\u00f4pital de la Timone Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. 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