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Journal Abstract Search

175 related items for PubMed ID: 22456946

  • 1.
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  • 2. Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function.
    Bartlett DC, Lloyd C, McKiernan PJ, Newsome PN.
    J Inherit Metab Dis; 2014 Sep; 37(5):745-52. PubMed ID: 24515874
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  • 3. Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.
    Yeo M, Turner C, Dalton NR, Rahman Y, Vara R.
    Ann Clin Biochem; 2020 Nov; 57(6):412-419. PubMed ID: 32936663
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  • 5. Outcome of children with hereditary tyrosinaemia following newborn screening.
    McKiernan PJ, Preece MA, Chakrapani A.
    Arch Dis Child; 2015 Aug; 100(8):738-41. PubMed ID: 25564536
    [Abstract] [Full Text] [Related]

  • 6. Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1.
    Sundberg J, Wibrand F, Lund AM, Christensen M.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2018 Jan 01; 1072():259-266. PubMed ID: 29195145
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  • 7. Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico.
    Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S, Guillén-López S, Vela-Amieva M.
    Ann Hepatol; 2014 Jan 01; 13(2):265-72. PubMed ID: 24552869
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  • 8. Recommendations for the management of tyrosinaemia type 1.
    de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkötter U.
    Orphanet J Rare Dis; 2013 Jan 11; 8():8. PubMed ID: 23311542
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  • 9. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
    Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM.
    Orphanet J Rare Dis; 2014 Aug 01; 9():107. PubMed ID: 25081276
    [Abstract] [Full Text] [Related]

  • 10. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study.
    Spiekerkoetter U, Couce ML, Das AM, de Laet C, Dionisi-Vici C, Lund AM, Schiff M, Spada M, Sparve E, Szamosi J, Vara R, Rudebeck M.
    Lancet Diabetes Endocrinol; 2021 Jul 01; 9(7):427-435. PubMed ID: 34023005
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  • 13. Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia.
    Rashed MS, Al-Ahaidib LY, Al-Dirbashi OY, Al Amoudi M, Al-Sayed MM, Rahbeeni Z, Al-Hassnan Z, Al-Dbaas A, Al-Owain M, Ni Luanaigh M.
    Anal Biochem; 2005 Apr 15; 339(2):310-7. PubMed ID: 15797572
    [Abstract] [Full Text] [Related]

  • 14. 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.
    la Marca G, Malvagia S, Materazzi S, Della Bona ML, Boenzi S, Martinelli D, Dionisi-Vici C.
    Anal Chem; 2012 Jan 17; 84(2):1184-8. PubMed ID: 22148291
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  • 15. Maternal and fetal tyrosinemia type I.
    Garcia Segarra N, Roche S, Imbard A, Benoist JF, Grenèche MO, Davit-Spraul A, Ogier de Baulny H.
    J Inherit Metab Dis; 2010 Dec 17; 33 Suppl 3():S507-10. PubMed ID: 23250512
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  • 17. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
    Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B.
    Lancet; 1992 Oct 03; 340(8823):813-7. PubMed ID: 1383656
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  • 18. Type 1 Tyrosinaemia.
    Mannion MA, Smith A, Mayne P, Monavari AA.
    Ir Med J; 2016 Jun 10; 109(6):426. PubMed ID: 27814443
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  • 20. Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).
    Sander J, Janzen N, Terhardt M, Sander S, Gökcay G, Demirkol M, Ozer I, Peter M, Das AM.
    Clin Chim Acta; 2011 Jan 14; 412(1-2):134-8. PubMed ID: 20883679
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