These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

184 related items for PubMed ID: 8162054

  • 21. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
    St-Louis M, Tanguay RM.
    Hum Mutat; 1997; 9(4):291-9. PubMed ID: 9101289
    [Abstract] [Full Text] [Related]

  • 22. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
    Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R.
    Hum Mutat; 1998; 12(1):19-26. PubMed ID: 9633815
    [Abstract] [Full Text] [Related]

  • 23. Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation.
    Grompe M, al-Dhalimy M.
    Hum Mutat; 1995; 5(1):105. PubMed ID: 7728147
    [No Abstract] [Full Text] [Related]

  • 24. Tyrosine and its catabolites: from disease to cancer.
    Tanguay RM, Jorquera R, Poudrier J, St-Louis M.
    Acta Biochim Pol; 1996; 43(1):209-16. PubMed ID: 8790725
    [Abstract] [Full Text] [Related]

  • 25. Purification of mRNA coding for the enzyme deficient in hereditary tyrosinemia, fumarylacetoacetate hydrolase.
    Nicole LM, Valet JP, Laberge C, Tanguay RM.
    Biochem Cell Biol; 1986 May; 64(5):489-93. PubMed ID: 3718716
    [Abstract] [Full Text] [Related]

  • 26. Hereditary tyrosinemia type I--an overview.
    Kvittingen EA.
    Scand J Clin Lab Invest Suppl; 1986 May; 184():27-34. PubMed ID: 3296130
    [Abstract] [Full Text] [Related]

  • 27. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
    Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanguay RM.
    Am J Hum Genet; 1991 Mar; 48(3):525-35. PubMed ID: 1998338
    [Abstract] [Full Text] [Related]

  • 28. Enzyme defect in a case of tyrosinemia type I, acute form.
    Furukawa N, Kinugasa A, Seo T, Ishii T, Ota T, Machida Y, Inoue F, Imashuku S, Kusunoki T, Takamatsu T.
    Pediatr Res; 1984 May; 18(5):463-6. PubMed ID: 6145143
    [Abstract] [Full Text] [Related]

  • 29. Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
    Kvittingen EA, Rootwelt H, van Dam T, van Faassen H, Berger R.
    Pediatr Res; 1992 Jan; 31(1):43-6. PubMed ID: 1594329
    [Abstract] [Full Text] [Related]

  • 30. Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1.
    Labelle Y, Puymirat J, Tanguay RM.
    Biochim Biophys Acta; 1993 Jan 22; 1180(3):250-6. PubMed ID: 8422430
    [Abstract] [Full Text] [Related]

  • 31. A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III.
    Endo F, Awata H, Katoh H, Matsuda I.
    Genomics; 1995 Jan 01; 25(1):164-9. PubMed ID: 7774914
    [Abstract] [Full Text] [Related]

  • 32. Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
    St-Louis M, Poudrier J, Tanguay RM.
    Hum Mutat; 1996 Jan 01; 7(4):379-80. PubMed ID: 8723698
    [No Abstract] [Full Text] [Related]

  • 33. Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
    Rootwelt H, Brodtkorb E, Kvittingen EA.
    Am J Hum Genet; 1994 Dec 01; 55(6):1122-7. PubMed ID: 7977370
    [Abstract] [Full Text] [Related]

  • 34. Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
    Kvittingen EA, Børresen AL, Stokke O, van der Hagen CB, Lie SO.
    Clin Genet; 1985 Jun 01; 27(6):550-4. PubMed ID: 4017276
    [Abstract] [Full Text] [Related]

  • 35. Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
    Haghighi-Kakhki H, Rezazadeh J, Ahmadi-Shadmehri A.
    J Pediatr Endocrinol Metab; 2014 Jul 01; 27(7-8):795-8. PubMed ID: 24756054
    [Abstract] [Full Text] [Related]

  • 36. Correction of fumarylacetoacetate hydrolase deficiency (type I tyrosinemia) in cultured human fibroblasts by retroviral-mediated gene transfer.
    Phaneuf D, Hadchouel M, Tanguay RM, Bréchot C, Ferry N.
    Biochem Biophys Res Commun; 1995 Mar 28; 208(3):957-63. PubMed ID: 7702626
    [Abstract] [Full Text] [Related]

  • 37. Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
    Demers SI, Phaneuf D, Tanguay RM.
    Am J Hum Genet; 1994 Aug 28; 55(2):327-33. PubMed ID: 7913582
    [Abstract] [Full Text] [Related]

  • 38. Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.
    Dreumont N, Maresca A, Khandjian EW, Baklouti F, Tanguay RM.
    Biochem Biophys Res Commun; 2004 Nov 05; 324(1):186-92. PubMed ID: 15465000
    [Abstract] [Full Text] [Related]

  • 39. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.
    Endo F, Kubo S, Awata H, Kiwaki K, Katoh H, Kanegae Y, Saito I, Miyazaki J, Yamamoto T, Jakobs C, Hattori S, Matsuda I.
    J Biol Chem; 1997 Sep 26; 272(39):24426-32. PubMed ID: 9305902
    [Abstract] [Full Text] [Related]

  • 40. Ex vivo hepatic gene therapy of a mouse model of Hereditary Tyrosinemia Type I.
    Overturf K, Al-Dhalimy M, Manning K, Ou CN, Finegold M, Grompe M.
    Hum Gene Ther; 1998 Feb 10; 9(3):295-304. PubMed ID: 9508047
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 10.