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Items: 1 to 20 of 21

1.

Tyrosinemia type I: Case series with response to treatment to NTBC.

Shah I, Shah F.

Indian J Gastroenterol. 2016 May;35(3):229-31. doi: 10.1007/s12664-016-0650-3. Epub 2016 Apr 25.

PMID:
27109516
2.

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.

Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA.

Mol Genet Metab. 2015 Mar;114(3):431-7. doi: 10.1016/j.ymgme.2015.01.005. Epub 2015 Jan 29.

PMID:
25680927
3.

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 Mar-Apr;13(2):265-72.

4.

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;164(2):398-401. doi: 10.1016/j.jpeds.2013.10.001. Epub 2013 Nov 14.

5.

Pregnancy in an NTBC-treated patient with hereditary tyrosinemia type I.

Kassel R, Sprietsma L, Rudnick DA.

J Pediatr Gastroenterol Nutr. 2015 Jan;60(1):e5-7. doi: 10.1097/MPG.0b013e3182a27463. No abstract available.

PMID:
23838819
6.

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;33 Suppl 3:S507-10. doi: 10.1007/s10545-012-9569-8. Epub 2012 Dec 19.

PMID:
23250512
7.

Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC.

Schauwvlieghe PP, Jaeken J, Kestelyn P, Claerhout I.

Cornea. 2013 Jan;32(1):91-4. doi: 10.1097/ICO.0b013e318243e474.

PMID:
22495034
8.

Single dose NTBC-treatment of hereditary tyrosinemia type I.

Schlune A, Thimm E, Herebian D, Spiekerkoetter U.

J Inherit Metab Dis. 2012 Sep;35(5):831-6. doi: 10.1007/s10545-012-9450-9. Epub 2012 Feb 4.

PMID:
22307209
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. doi: 10.1021/ac202695h. Epub 2011 Dec 29. Erratum in: Anal Chem. 2014 Oct 21;86(20):10501.

PMID:
22148291
10.

Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database.

Arnon R, Annunziato R, Miloh T, Wasserstein M, Sogawa H, Wilson M, Suchy F, Kerkar N.

Pediatr Transplant. 2011 Jun;15(4):400-5. doi: 10.1111/j.1399-3046.2011.01497.x. Epub 2011 Apr 19.

PMID:
21504522
11.

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;102(2):122-5. doi: 10.1016/j.ymgme.2010.11.003. Epub 2010 Nov 10.

PMID:
21112803
12.

Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-[2-nitro-4-(trifluoromethyl)benzoyl]-1,3-cyclohexanedione.

Molchanov S, Gryff-Keller A.

Acta Biochim Pol. 2009;56(3):447-54. Epub 2009 Jul 21.

13.

Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?

Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ.

Mol Genet Metab. 2006 Dec;89(4):310-5. Epub 2006 Sep 27.

PMID:
17008115
14.

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;59(3):365-70.

PMID:
16492973
15.
16.

Awakening gene therapy with Sleeping Beauty transposons.

Essner JJ, McIvor RS, Hackett PB.

Curr Opin Pharmacol. 2005 Oct;5(5):513-9. Review.

PMID:
16084771
17.

Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment.

van Spronsen FJ, Bijleveld CM, van Maldegem BT, Wijburg FA.

J Pediatr Gastroenterol Nutr. 2005 Jan;40(1):90-3. No abstract available.

PMID:
15625434
18.

Corneal opacities associated with NTBC treatment.

Ahmad S, Teckman JH, Lueder GT.

Am J Ophthalmol. 2002 Aug;134(2):266-8.

PMID:
12140036
19.

Pediatric liver transplantation in metabolic disease: clinical decision making.

Shneider BL.

Pediatr Transplant. 2002 Feb;6(1):25-9. Review.

PMID:
11906639
20.

Diagnosis and management of tyrosinemia type I.

Holme E, Lindstedt S.

Curr Opin Pediatr. 1995 Dec;7(6):726-32. Review.

PMID:
8776026

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