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Journal Abstract Search

219 related items for PubMed ID: 23250512

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  • 2. [Mutation analysis of FAH gene in patients with tyrosinemia type 1].
    Dou LM, Fang LJ, Wang XH, Lu W, Chen R, Li LT, Zhao J, Wang JS.
    Zhonghua Er Ke Za Zhi; 2013 Apr; 51(4):302-7. PubMed ID: 23927806
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  • 6. A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
    Cassiman D, Zeevaert R, Holme E, Kvittingen EA, Jaeken J.
    Orphanet J Rare Dis; 2009 Dec 15; 4():28. PubMed ID: 20003495
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  • 7. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
    Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA, Québec NTBC Study Group.
    J Med Genet; 2017 Apr 15; 54(4):241-247. PubMed ID: 27876694
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  • 8. 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
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  • 9. 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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  • 10. Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 - a case report.
    Zöggeler T, Ramoser G, Höller A, Jörg-Streller M, Janzen N, Ramoni A, Scholl-Bürgi S, Karall D.
    J Pediatr Endocrinol Metab; 2022 Feb 23; 35(2):259-265. PubMed ID: 34506697
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  • 11. 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
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  • 12. Tissue-specific FAH deficiency alters sleep-wake patterns and results in chronic tyrosinemia in mice.
    Yang S, Siepka SM, Cox KH, Kumar V, de Groot M, Chelliah Y, Chen J, Tu B, Takahashi JS.
    Proc Natl Acad Sci U S A; 2019 Oct 29; 116(44):22229-22236. PubMed ID: 31611405
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  • 13. [Screening for hereditary tyrosinemia and genotype analysis in newborns].
    Tong F, Yang R, Liu C, Wu D, Zhang T, Huang X, Hong F, Qian G, Huang X, Zhou X, Shu Q, Zhao Z.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2019 Jun 25; 48(4):459-464. PubMed ID: 31901053
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  • 14. 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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  • 15. Outcome of children with hereditary tyrosinaemia following newborn screening.
    McKiernan PJ, Preece MA, Chakrapani A.
    Arch Dis Child; 2015 Aug 01; 100(8):738-41. PubMed ID: 25564536
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  • 16. 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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  • 17. Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1.
    Bartlett DC, Preece MA, Holme E, Lloyd C, Newsome PN, McKiernan PJ.
    J Inherit Metab Dis; 2013 Jan 17; 36(1):15-20. PubMed ID: 22456946
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  • 18. Laboratory monitoring of patients with hereditary tyrosinemia type I.
    Schultz MJ, Netzel BC, Singh RH, Pino GB, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Tortorelli S, Smith WE, Matern D.
    Mol Genet Metab; 2020 Aug 17; 130(4):247-254. PubMed ID: 32546364
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  • 19. 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 17; 57(2):281-9. PubMed ID: 25223216
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