Chakrapani A, Gissen P, McKiernan P: Disorders of Tyrosine Metabolism. Inborn Metabolic Diseases. 5th edition. Edited by: Saudubray J-M, Berghe G, Walter JH. Heidelberg: Springer; 2012:275-276. Chapter 18.
Google Scholar
De Braekeleer M, Larochelle J: Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet. 1990, 47: 302-307.
CAS
PubMed Central
PubMed
Google Scholar
Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B: Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet. 1992, 340: 813-817. 10.1016/0140-6736(92)92685-9.
Article
CAS
PubMed
Google Scholar
Santra S, Baumann U: Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother. 2008, 9: 1229-1236. 10.1517/14656566.9.7.1229.
Article
CAS
PubMed
Google Scholar
Couce ML, Aldámiz-Echevarría L, Baldellou A, Blasco J, Bueno MA, Dalmau J, De La Vega A, Del Toro M, Díaz C, Lama R, Leao E, Marrero M, Navas VM, Pintos G: Recommendations and management of type I hereditary or hepatorenal tyrosinemia. An Pediatr (Barc). 2010, 73: 279-e1-4
Article
Google Scholar
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier De Baulny H, French-Belgian study group for HT-1: Heterogeneity of follow-up procedures in French and Belgian patients with treated Hereditary tyrosinaemia type 1: results of a questionnaire and proposed guidelines. J Inherit Metab Dis. 2012, 35: 823-829. 10.1007/s10545-011-9429-y.
Article
PubMed
Google Scholar
Baumann U, Preece MA, Green A, Kelly DA, McKiernan PJ: Hyperinsulinism in tyrosinaemia type I. J Inherit Metab Dis. 2005, 28: 131-135. 10.1007/s10545-005-5517-1.
Article
CAS
PubMed
Google Scholar
van Spronsen FJ, Thomasse Y, Smit GP, Leonard JV, Clayton PT, Fidler V, Berger R, Heymans HS: Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology. 1994, 20: 1187-1191. 10.1002/hep.1840200513.
Article
CAS
PubMed
Google Scholar
Epov L, Srugo I, Kassis I, Bar-Joseph G, Mandel H, Kugelman A: 'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation). Diagnosis: Hereditary tyrosinaemia type I presenting as E.coli septicaemia. Acta Paediatr. 2010, 99: 1437-1438. 10.1111/j.1651-2227.2010.01901.x.
Article
Google Scholar
Arora N, Stumper O, Wright J, Kelly DA, McKiernan PJ: Cardiomyopathy in tyrosinaemia type I is common but usually benign. J Inherit Metab Dis. 2006, 29: 54-57. 10.1007/s10545-006-0203-5.
Article
CAS
PubMed
Google Scholar
Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA: Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab. 2012, Epub ahead of print
Google Scholar
Morrissey MA, Sunny S, Fahim A, Lubowski C, Caggana M: Newborn screening for Tyr-I: two years' experience of the New York State program. Mol Genet Metab. 2011, 103: 191-192. 10.1016/j.ymgme.2011.02.017.
Article
CAS
PubMed
Google Scholar
Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA: Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab. 2012, 107: 49-54. 10.1016/j.ymgme.2012.05.022.
Article
CAS
PubMed
Google Scholar
Schlump JU, Mayatepek E, Spiekerkoetter U: Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. Eur J Pediatr. 2010, 169: 569-572. 10.1007/s00431-009-1074-1.
Article
PubMed
Google Scholar
Hostetter MK, Levy HL, Winter HS, Knight GJ, Haddow JE: Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med. 1983, 308: 1265-1267. 10.1056/NEJM198305263082105.
Article
CAS
PubMed
Google Scholar
Holme E, Lindstedt S: Tyrosinemia type I and NTBC. J Inher Metab Dis. 1998, 21: 507-517. 10.1023/A:1005410820201.
Article
CAS
PubMed
Google Scholar
Coenegrachts K, Delanote J, Ter Beek L, Haspeslagh M, Bipat S, Stoker J, Van Kerkhove F, Steyaert L, Rigauts H, Casselman JW: Improved focal liver lesion detection: comparison of single-shot diffusion-weighted echoplanar and single-shot T2 weighted turbo spin echo techniques. Br J Radiol. 2007, 80: 524-531. 10.1259/bjr/33156643.
Article
CAS
PubMed
Google Scholar
Parikh T, Drew SJ, Lee VS, Wong S, Hecht EM, Babb JS, Taouli B: Focal liver lesion detection and characterization with diffusion-weighted MR imaging: comparison with standard breath-hold T2-weighted imaging. Radiology. 2008, 246: 812-822. 10.1148/radiol.2463070432.
Article
PubMed
Google Scholar
Hall MG, Wilks MF, Provan WM, Eksborg S, Lumholtz B: 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: 169-177. 10.1046/j.0306-5251.2001.01421.x.
Article
CAS
PubMed Central
PubMed
Google Scholar
Schlune A, Thimm E, Herebian D, Spiekerkoetter U: Single dose NTBC treatment of hereditary tyrosinaemia type 1. J Inherited Metab Dis. 2012, 35: 831-836. 10.1007/s10545-012-9450-9.
Article
CAS
PubMed
Google Scholar
Schlump JU, Perot C, Ketteler K, Schiff M, Mayatepek E, Wendel U, Spiekerkoetter U: Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment. J Inherit Metab Dis. 2008, 31 (Suppl 2): S223-S225.
Article
PubMed
Google Scholar
Holme E: Disorders of tyrosine degradation. Physicians Guide to the Treatment and Follow-Up of Metabolic Diseases. Edited by: Blau N, Leonard J, Hoffmann GF, Clarke JTR. Berlin: Springer; 2006:49-56.
Chapter
Google Scholar
Herebian D, Spiekerkötter U, Lamshöft M, Thimm E, Laryea M, Mayatepek E: Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of yrosinaemia type 1 patients. J Chromatogr B Analyt Technol Biomed Life Sci. 2009, 877: 1453-1459. 10.1016/j.jchromb.2009.03.014.
Article
CAS
PubMed
Google Scholar
El-Karaksy H, Rashed M, El-Sayed R, El-Raziky M, El-Koofy N, El-Hawary M, Al-Dirbashi O: Clinical practice. NTBC therapy for yrosinaemia type 1: how much is enough?. Eur J Pediatr. 2010, 169: 689-693. 10.1007/s00431-009-1090-1.
Article
PubMed
Google Scholar
D’Eufemia P, Celli M, Tetti M, Finocchiaro R: Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended. Eur J Pediatr. 2011, 170: 819-10.1007/s00431-011-1419-4.
Article
PubMed
Google Scholar
Grompe M, St-Louis M, Demers SI, Al-Dhalimy M, Leclerc B, Tanguay RM: A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary yrosinaemia type I. New Eng J Med. 1994, 331: 353-357. 10.1056/NEJM199408113310603.
Article
CAS
PubMed
Google Scholar
Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldámiz-Echevarría L: Spanish Working Group on Tyrosinemia type 1.Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. Pediatr Int. 2011, 53: 985-989. 10.1111/j.1442-200X.2011.03427.x.
Article
CAS
PubMed
Google Scholar
On line Mendelian Inheritance in man: Tyrosinemia type 1.http://omim.org/entry/276700,
La Marca G, Malvagia S, Materazzi S, Della Bona ML, Boenzi S, Martinelli D, Dionisi-Vici C: 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: 1184-1188. 10.1021/ac202695h.
Article
CAS
PubMed
Google Scholar
Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ: Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?. Mol Genet Metab. 2006, 89: 310-315. 10.1016/j.ymgme.2006.07.009.
Article
CAS
PubMed
Google Scholar
Baumann U, Duhme V, Auth MK, McKiernan PJ, Holme E: Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma. J Pediatr Gastroenterol Nutr. 2006, 43: 77-82. 10.1097/01.mpg.0000228112.29359.f8.
Article
CAS
PubMed
Google Scholar
Thimm E, Herebian D, Assmann B, Klee D, Mayatepek E, Spiekerkoetter U: Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. Mol Genet Metab. 2011, 102: 122-125. 10.1016/j.ymgme.2010.11.003.
Article
CAS
PubMed
Google Scholar
Wilson CJ, Van Wyk KG, Leonard JV, Clayton PT: Phenylalanine supplementation improves the phenylalanine in tyrosinaemia. J Inherit Metab Dis. 2000, 23: 677-683. 10.1023/A:1005666426079.
Article
CAS
PubMed
Google Scholar
Daly A, Gokmen-Ozel H, MacDonald A, Preece MA, Davies P, Chakrapani A, McKiernan P: Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?. J Hum Nutr Diet. 2012, 25: 111-116. 10.1111/j.1365-277X.2011.01215.x.
Article
CAS
PubMed
Google Scholar
Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, de Baulny HO, Touati G: NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis. 2008, 31: 81-87. 10.1007/s10545-008-0793-1.
Article
CAS
PubMed
Google Scholar
De Laet C, Munoz VT, Jaeken J, François B, Carton D, Sokal EM, Dan B, Goyens PJ: Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1. Dev Med Child Neurol. 2011, 53: 962-964. 10.1111/j.1469-8749.2011.04048.x.
Article
PubMed
Google Scholar
Thimm E, Richter-Werkle R, Kamp G, Molke B, Herebian D, Klee D, Mayatepek E, Spiekerkoetter U: Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis. 2012, 35: 263-268. 10.1007/s10545-011-9394-5.
Article
CAS
PubMed
Google Scholar
Crone J, Möslinger D, Bodamer OA, Schima W, Huber WD, Holme E, Stöckler Ipsiroglu S: Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr. 2003, 92: 625-628. 10.1111/j.1651-2227.2003.tb02518.x.
Article
CAS
PubMed
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: 13-16. 10.1023/A:1024011110116.
Article
CAS
PubMed
Google Scholar
Lock EA, Gaskin P, Ellis M, Provan WM, Smith LL: Tyrosinemia produced by 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) in experimental animals and its relationship to corneal injury. Toxicol Appl Pharmacol. 2006, 215: 9-16. 10.1016/j.taap.2006.01.015.
Article
CAS
PubMed
Google Scholar
Vanclooster A, Devlieger R, Meersseman W, Spraul A, Vande Kerckhove K, Vermeersch P, Meulemans A, Allegaert K, Cassiman D: Pregnancy during nitisinone treatment for tyrosinemia type I: first human experience. J Inherit Metab Dis. in press
Garcia Segarra N, Roche S, Benoist JF, Spraul A, Ogier De Baulny H: Fetal and Maternal Tyrosinemia type 1. submitted for publication
Poudrier J, Lettre F, St-Louis M, Tanguay RM: Genotyping of a case of tyrosinemia type I with a normal level of succinylacetone in amniotic fluid. Prenat Diagn. 1999, 19: 61-63. 10.1002/(SICI)1097-0223(199901)19:1<61::AID-PD455>3.0.CO;2-#.
Article
CAS
PubMed
Google Scholar