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Journal Abstract Search

310 related items for PubMed ID: 21752152

  • 1. Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
    Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldámiz-Echevarría L, Spanish Working Group on Tyrosinemia type 1.
    Pediatr Int; 2011 Dec; 53(6):985-9. PubMed ID: 21752152
    [Abstract] [Full Text] [Related]

  • 2. Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience.
    Zeybek AC, Kiykim E, Soyucen E, Cansever S, Altay S, Zubarioglu T, Erkan T, Aydin A.
    Pediatr Int; 2015 Apr; 57(2):281-9. PubMed ID: 25223216
    [Abstract] [Full Text] [Related]

  • 3. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
    Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, García-Volpe C, Pintos G, Peña-Quintana L, Hernández T, Gil D, Sánchez-Valverde F, Bueno M, Roca I, López-Ruzafa E, Díaz-Fernández C.
    Medicine (Baltimore); 2019 Sep; 98(39):e17303. PubMed ID: 31574857
    [Abstract] [Full Text] [Related]

  • 4. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
    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.
    Mol Genet Metab; 2012 Sep; 107(1-2):49-54. PubMed ID: 22885033
    [Abstract] [Full Text] [Related]

  • 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. The fate of tyrosinaemic Hungarian patients before the NTBC aera.
    László A, Rózsa M, Sallay E, Tiszlavicz L, Janovszky A, Várkonyi A, Karg E, Wittmann G, Túri S, Ugarte M.
    Ideggyogy Sz; 2013 Nov 30; 66(11-12):415-9. PubMed ID: 24555242
    [Abstract] [Full Text] [Related]

  • 7. The outcome of seven patients with hereditary tyrosinemia type 1.
    Gokay S, Ustkoyuncu PS, Kardas F, Kendirci M.
    J Pediatr Endocrinol Metab; 2016 Oct 01; 29(10):1151-1157. PubMed ID: 27682708
    [Abstract] [Full Text] [Related]

  • 8. In brief: Nitisinone (Orfadin) for hereditary tyrosinemia.
    Med Lett Drugs Ther; 2016 Oct 10; 58(1505):e132. PubMed ID: 27701365
    [No Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1.
    Santra S, Baumann U.
    Expert Opin Pharmacother; 2008 May 17; 9(7):1229-36. PubMed ID: 18422479
    [Abstract] [Full Text] [Related]

  • 11. Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.
    Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM.
    J Pediatr; 2014 Feb 17; 164(2):398-401. PubMed ID: 24238861
    [Abstract] [Full Text] [Related]

  • 12. Natural history of alkaptonuria.
    Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA.
    N Engl J Med; 2002 Dec 26; 347(26):2111-21. PubMed ID: 12501223
    [Abstract] [Full Text] [Related]

  • 13. First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia.
    Äärelä L, Nevalainen PI, Kurppa K, Hiltunen P.
    J Pediatr Endocrinol Metab; 2020 May 26; 33(5):661-664. PubMed ID: 32238608
    [Abstract] [Full Text] [Related]

  • 14. Nitisinone: new drug. Type 1 tyrosinemia: an effective drug.
    Prescrire Int; 2007 Apr 26; 16(88):56-8. PubMed ID: 17458044
    [Abstract] [Full Text] [Related]

  • 15. Pregnancy in an NTBC-treated patient with hereditary tyrosinemia type I.
    Kassel R, Sprietsma L, Rudnick DA.
    J Pediatr Gastroenterol Nutr; 2015 Jan 26; 60(1):e5-7. PubMed ID: 23838819
    [No Abstract] [Full Text] [Related]

  • 16. 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 26; 9(7):427-435. PubMed ID: 34023005
    [Abstract] [Full Text] [Related]

  • 17. 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 26; 33 Suppl 3():S507-10. PubMed ID: 23250512
    [Abstract] [Full Text] [Related]

  • 18. Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.
    Thimm E, Herebian D, Assmann B, Klee D, Mayatepek E, Spiekerkoetter U.
    Mol Genet Metab; 2011 Feb 26; 102(2):122-5. PubMed ID: 21112803
    [Abstract] [Full Text] [Related]

  • 19. Type 1 tyrosinemia in Finland: a nationwide study.
    Äärelä L, Hiltunen P, Soini T, Vuorela N, Huhtala H, Nevalainen PI, Heikinheimo M, Kivelä L, Kurppa K.
    Orphanet J Rare Dis; 2020 Oct 12; 15(1):281. PubMed ID: 33046095
    [Abstract] [Full Text] [Related]

  • 20. 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 12; 37(5):745-52. PubMed ID: 24515874
    [Abstract] [Full Text] [Related]

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