Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

References

• SanderJJanzenNPeterMNewborn Screening or hepatorenal tyrosinemia: tandem mass spectrometric quantification of succinylacetoneClin Chem200652348248716439608
   PubMed Web of Science ®Google Scholar
• LindbladBLindstedtSSteenGOn the enzymatic defects in hereditary tyrosinemiaProc Natl Acad Sci U S A1977741046414645270706
   PubMed Web of Science ®Google Scholar
• ChakrapaniAHolmeEDisorders of tyrosine metabolismFernandezSvan den BergheWInborn Metabolic Diseases4th edHeidelbergSpringer2006233243
   Google Scholar
• van SpronsenFJBijleveldCMvan MaldegemBTWijburgFAHepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3-trifluoro-methylbenzoyl)-1,3-cyclohexanedione treatmentJ Pediatr Gastroenterol Nutr2005401909315625434
   PubMed Web of Science ®Google Scholar
• WeinbergAGMizeCEWorthenHGThe occurrence of hepatoma in the chronic form of hereditary tyrosinemiaJ Pediatr1976883434438173827
   PubMed Web of Science ®Google Scholar
• LockERanganathLRTimmisOThe role of nitisinone in tyrosine pathway disordersCurr Rheumatol Rep2014161145746425266991
   PubMed Web of Science ®Google Scholar
• KnudsenCGLeeDLMichaelyWJDiscovery of the triketone class of HPPD inhibiting herbicides and their relationship to naturally occurring beta-triketonesNarwalSSHoaglandREDildayRHReigosaMAllelopathy in Ecological Agriculture and ForestryDordrechtKluwer Academic Publishers2000101111
   Google Scholar
• SantucciABernardiniGBraconiDPetricciEManettiF4-hydroxyphenylpyruvate dioxygenase and its inhibition in plants and animals: small molecules as herbicides and agents for the treatment of human inherited diseasesJ Med Chem201760104101412528128559
   PubMed Web of Science ®Google Scholar
• PallettKCan we expect new herbicides with novel modes of action in the foreseeable future?Outlooks Pest Manag20162713943
   Google Scholar
• EllisMKWhitfieldACGowansLAInhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-(2-nitro-4-trifluoro - methylbenzoyl)-cyclohexane-1,3-dione and 2-(2-chloro-4-methanesulphonylbenzoyl)-cyclohexane-1,3-dioneToxicol Appl Pharmacol1995133112197597701
   PubMed Web of Science ®Google Scholar
• HallMGWilksMFMcLean ProvanWEksborgSLumholtzBPharmacokinetics 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 volunteersBr J Clin Pharmacol200152216917711488774
   PubMed Web of Science ®Google Scholar
• SchluneAThimmEHerebianDSpiekerkoetterUSingle dose NTBC-treatment of hereditary tyrosinemia type IJ Inherit Metab Dis201235583183622307209
   PubMed Web of Science ®Google Scholar
• MayorandanSMeyerUGokcayGCross sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practiceOrphanet J Rare Dis2014910725081276
   PubMed Web of Science ®Google Scholar
• Masurel-PauletAPoggi-BachJRollandMONTBC-treatment in tyrosinaemia type I: long-term outcome in French patientsJ Inherit Metab Dis2008311818718214711
   PubMed Web of Science ®Google Scholar
• VondrákováATesarováMMagnerMClinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type ICas Lek Cesk20101499411416 Czech21117323
   PubMedGoogle Scholar
• CouceMLDalmauJdel ToroMPintos-MorellGAldámiz-Echevarría LSpanish Working Group on Tyrosinemia type 1Tyrosinemia type I in Spain: mutational analysis, treatment and long-term outcomePediatr Int201153698598921752152
   PubMed Web of Science ®Google Scholar
• CouceMLAldámiz-EchevarríaLBaldellouARecomendaciones y manejo de la tirosinemia hereditaria Tipo I o Tirosinemia hepatorrenal [Recommendations and management of type I hereditary or hepatorenal tyrosinemia]An Pediatr (Barc)2010735279.e1e4 Spanish20813594
   PubMedGoogle Scholar
• LarochelleJAlvarezFBussièresJFEffect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in QuébecMol Genet Metab20121071–2495422885033
   PubMed Web of Science ®Google Scholar
• SchiffMBrouePChabrolBFrench-Belgian study group for HT-1Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type I: results of a questionnaire and proposed guidelinesJ Inherit Metab Dis201235582382922167277
   PubMed Web of Science ®Google Scholar
• CoşkunTOzalpIKoçakNYüceACaglarMBergerRType I hereditary tyrosinaemia: presentation of 11 casesJ Inherit Metab Dis19911457657701664010
   PubMed Web of Science ®Google Scholar
• de LaetCDionisi-ViciCLeonardJVRecommendations for the management of tyrosinaemia type 1Orphanet J Rare Dis20138823311542
   PubMed Web of Science ®Google Scholar
• HolmeELindstedtSTyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedioneJ Inherit Metab Dis19982155075179728331
   PubMed Web of Science ®Google Scholar
• la MarcaGMalvagiaSMaterazziSLC-MS/MS method for simultaneous determination on a dried blood spots of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type IAnal Chem20128421184118822148291
   PubMed Web of Science ®Google Scholar
• AllardPGrenierAKorsonMSZytkoviczTHNewborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spotsClin Biochem200437111010101515498530
   PubMed Web of Science ®Google Scholar
• ThimmERichter-WerkleRKampGNeurocognitive outcome in patients with hypertyrosinemia type I after a long-term treatment with NTBCJ Inherit Metab Dis201235226326822069142
   PubMed Web of Science ®Google Scholar
• De LaetCMunozVTJaekenJNeuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1Dev Med Child Neurol2011531096296421745202
   PubMed Web of Science ®Google Scholar
• PohoreckaMBiernackaMJakubowska-WineckaABehavioral and intellectual functioning in patients with tyrosinemia type IPediatr Endocrinol Diabetes Metab20121839610023146787
   PubMedGoogle Scholar
• BendadiFde KoningTJVisserGImpaired cognitive functioning in patients with tyrosinemia type I receiving nitisinoneJ Pediatr2014164239840124238861
   PubMed Web of Science ®Google Scholar
• GarcíaMIde la ParraAAriasCArredondoMCabelloJFLong-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted dietMol Genet Metab Rep201711121628377889
   PubMed Web of Science ®Google Scholar
• GissenPPreeceMAWillshawHAMcKiernanPJOphthalmic follow-up of patients with tyrosinaemia type I on NTBCJ Inherit Metab Dis2003261131612872835
   PubMed Web of Science ®Google Scholar
• SanderJJanzenNTerhardtMMonitoring tyrosinaemia type I: blood spot test for nitisinone (NTBC)Clin Chim Acta20114121–213413820883679
   PubMed Web of Science ®Google Scholar
• VancloosterADevliegerRMeerssemanWPregnancy during nitisinone treatment for tyrosinaemia type I: first human experienceJIMD Rep20125273323430914
   PubMedGoogle Scholar
• KasselRSprietsmaLRudnickDAPregnancy in an NTBC-treated patient with hereditary tyrosinemia type IJ Pediatr Gastroenterol Nutr2015601e5e723838819
   PubMed Web of Science ®Google Scholar