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Journal Abstract Search
209 related items for PubMed ID: 24555242
1. 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]
2. Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity. Jacobs SM, van Beurden DH, Klomp LW, Berger R, van den Berg IE. Pediatr Res; 2006 Mar 30; 59(3):365-70. PubMed ID: 16492973 [Abstract] [Full Text] [Related]
3. 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 30; 53(6):985-9. PubMed ID: 21752152 [Abstract] [Full Text] [Related]
4. Pregnancy in an NTBC-treated patient with hereditary tyrosinemia type I. Kassel R, Sprietsma L, Rudnick DA. J Pediatr Gastroenterol Nutr; 2015 Jan 30; 60(1):e5-7. PubMed ID: 23838819 [No Abstract] [Full Text] [Related]
5. 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]
6. [Evolution of a case of tyrosinemia type I treated with NTBC]. Ros Viladoms J, Vilaseca Buscà MA, Lambruschini Ferri N, Mas Comas A, González Pascual E, Holme E. An Esp Pediatr; 2001 Mar 10; 54(3):305-9. PubMed ID: 11262262 [Abstract] [Full Text] [Related]
7. 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 [Abstract] [Full Text] [Related]
8. 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]
12. Experience with NTBC therapy in hereditary tyrosinaemia type I: an alternative to liver transplantation. Joshi SN, Venugopalan P. Ann Trop Paediatr; 2004 Sep 17; 24(3):259-65. PubMed ID: 15479577 [Abstract] [Full Text] [Related]
13. Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC). Pronicka E, Rowinska E, Bentkowski Z, Zawadzki J, Holme E, Lindstedt S. J Inherit Metab Dis; 1996 Sep 17; 19(2):234-8. PubMed ID: 8739974 [No Abstract] [Full Text] [Related]
16. Outcome of children with hereditary tyrosinaemia following newborn screening. McKiernan PJ, Preece MA, Chakrapani A. Arch Dis Child; 2015 Aug 17; 100(8):738-41. PubMed ID: 25564536 [Abstract] [Full Text] [Related]