Nitisinone for the treatment of hereditary tyrosinemia type I

Bibliography

• McKiernan PJ. Nitisinone in the treatment of hereditary tyrosinaemia type 1. Drugs 2006;66(6):743-50
   PubMed Web of Science ®Google Scholar
• Mitchell GA, Grompe M, Lambert M, Tanguay RM. Hypertyrosinemia. In: Scriver CRBALSWSVD, editor. The metabolic and molecular bases of inherited disease. McGraw-Hill; New York: 2001. p. 1777-805
   Google Scholar
• Castilloux J, Laberge AM, Martin SR, et al. "Silent" tyrosinemia presenting as hepatocellular carcinoma in a 10-year-old girl. J Pediatr Gastroenterol Nutr 2007;44(3):375-7
   Google Scholar
• Nobili V, Jenkner A, Francalanci P, et al. Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome. Pediatrics 2010;126(1):e235-8
   Google Scholar
• de Laet C, Dionisi-Vici C, Leonard JV, et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis 2013;8(1):8
   Google Scholar
• Holme E, Lindstedt S. Nontransplant treatment of tyrosinemia. Clin Liver Dis 2000;4(4):805-14
   Google Scholar
• Larochelle J, Alvarez F, Bussieres JF, et al. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab 2012;107(1-2):49-54
   PubMed Web of Science ®Google Scholar
• De Laet C, Munoz VT, Jaeken J, et al. Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1. Dev Med Child Neurol 2011;53(10):962-4
   PubMed Web of Science ®Google Scholar
• Masurel-Paulet A, Poggi-Bach J, Rolland MO, et al. NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis 2008;31(1):81-7
   PubMed Web of Science ®Google Scholar
• Thimm E, Richter-Werkle R, Kamp G, et al. Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis 2012;35(2):263-8
   PubMed Web of Science ®Google Scholar
• Lock EA, Ellis MK, Gaskin P, et al. From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug. J Inherit Metab Dis 1998;21(5):498-506
   PubMed Web of Science ®Google Scholar
• Lindstedt S, Holme E, Lock EA, et al. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992;340(8823):813-17
   PubMed Web of Science ®Google Scholar
• Available from: http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/000555/WC500049195.pdf 2013
   Google Scholar
• Hall MG, Wilks MF, Provan WM, et al. Pharmacokinetics and pharmacodynamics of NTBC (2-(2-nitro-4-fluoromethylbenzoyl)-1,3-cyclohexanedione) and mesotrione, inhibitors of 4-hydroxyphenyl pyruvate dioxygenase (HPPD) following a single dose to healthy male volunteers. Br J Clin Pharmacol 2001;52(2):169-77
   PubMed Web of Science ®Google Scholar
• Schlune A, Thimm E, Herebian D, Spiekerkoetter U. Single dose NTBC-treatment of hereditary tyrosinemia type I. J Inherit Metab Dis 2012;35(5):831-6
   Web of Science ®Google Scholar
• la Marca G, Malvagia S, Materazzi S, et al. LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. Anal Chem 2012;84(2):1184-8
   Google Scholar
• Holme E, Lindstedt S. Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 1998;21(5):507-17
   PubMed Web of Science ®Google Scholar
• Santra S, Preece MA, Hulton SA, McKiernan PJ. Renal tubular function in children with tyrosinaemia type I treated with nitisinone. J Inherit Metab Dis 2008;31(3):399-402
   PubMed Web of Science ®Google Scholar
• Couce ML, Dalmau J, del Toro M, et al. Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. Pediatr Int 2011;53(6):985-9
   Google Scholar
• El Karaksy H, Fahmy M, El Raziky M, et al. Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases. World J Pediatr 2011;7(3):224-31
   Google Scholar
• Santra S, Baumann U. Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother 2008;9(7):1229-36
   PubMed Web of Science ®Google Scholar
• Crone J, Moslinger D, Bodamer OA, et al. Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr 2003;92(5):625-8
   Google Scholar
• van Spronsen FJ, Bijleveld CM, van Maldegem BT, Wijburg FA. Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment. J Pediatr Gastroenterol Nutr 2005;40(1):90-3
   PubMed Web of Science ®Google Scholar
• Weinberg AG, Mize CE, Worthen HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 1976;88(3):434-8
   PubMed Web of Science ®Google Scholar
• van Spronsen FJ, Thomasse Y, Smit GP, et al. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 1994;20(5):1187-91
   Web of Science ®Google Scholar
• Gibbs TC, Payan J, Brett EM, et al. Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase. J Neurol Neurosurg Psychiatry 1993;56(10):1129-32
   PubMed Web of Science ®Google Scholar
• Baumann U, Preece MA, Green A, et al. Hyperinsulinism in tyrosinaemia type I. J Inherit Metab Dis 2005;28(2):131-5
   Web of Science ®Google Scholar
• Arora N, Stumper O, Wright J, et al. Cardiomyopathy in tyrosinaemia type I is common but usually benign. J Inherit Metab Dis 2006;29(1):54-7
   Web of Science ®Google Scholar
• Bartlett DC, Preece MA, Holme E, et al. Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1. J Inherit Metab Dis 2013;36(1):15-20
   Google Scholar
• Garcia SN, Roche S, Imbard A, et al. Maternal and fetal tyrosinemia type I. J Inherit Metab Dis 2012; Epub ahead of print
   Google Scholar
• Vanclooster A, Devlieger R, Meersseman W, et al. Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experience. JIMD Rep 2012;5:27-33
   Google Scholar
• Koelink CJ, van Hasselt P, van der PA, et al. Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab 2006;89(4):310-15
   Google Scholar
• Gissen P, Preece MA, Willshaw HA, McKiernan PJ. Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC. J Inherit Metab Dis 2003;26(1):13-16
   Web of Science ®Google Scholar
• Ellaway CJ, Holme E, Standing S, et al. Outcome of tyrosinaemia type III. J Inherit Metab Dis 2001;24(8):824-32
   Web of Science ®Google Scholar
• Cerone R, Fantasia AR, Castellano E, et al. Pregnancy and tyrosinaemia type II. J Inherit Metab Dis 2002;25(4):317-18
   Google Scholar
• Thimm E, Herebian D, Assmann B, et al. Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. Mol Genet Metab 2011;102(2):122-5
   PubMed Web of Science ®Google Scholar
• Introne WJ, Perry MB, Troendle J, et al. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab 2011;103(4):307-14
   PubMed Web of Science ®Google Scholar