BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 8162054)

  • 41. Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean.
    Poudrier J; St-Louis M; Lettre F; Gibson K; Prévost C; Larochelle J; Tanguay RM
    Prenat Diagn; 1996 Jan; 16(1):59-64. PubMed ID: 8821854
    [TBL] [Abstract][Full Text] [Related]  

  • 42. A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
    Maksimova NR; Gurinova EE; Sukhomyasova AL; Danilova AL; Kaimonov VS; Savvina MT; Yakovleva AE; Alekseeva EI
    Wiad Lek; 2016; 69(2 Pt 2):295-8. PubMed ID: 27487552
    [TBL] [Abstract][Full Text] [Related]  

  • 43. The effects of early treatment of hereditary tyrosinemia type I in infancy by orthotopic liver transplantation.
    Flye MW; Riely CA; Hainline BE; Sassa S; Gusberg RJ; Blakemore KJ; Barwick KW; Horwich AL
    Transplantation; 1990 May; 49(5):916-21. PubMed ID: 2336709
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
    Ijaz S; Zahoor MY; Imran M; Afzal S; Bhinder MA; Ullah I; Cheema HA; Ramzan K; Shehzad W
    J Pediatr Endocrinol Metab; 2016 Mar; 29(3):327-32. PubMed ID: 26565546
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.
    Berger R; Smit GP; Stoker-de Vries SA; Duran M; Ketting D; Wadman SK
    Clin Chim Acta; 1981 Jul; 114(1):37-44. PubMed ID: 7249373
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities.
    Collins JC; Buchanan DN; Thoene JG; Erickson RP; Brooks SS; Gluecksohn-Waelsch S
    Biochem Biophys Res Commun; 1992 Aug; 187(1):340-6. PubMed ID: 1520318
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.
    Kvittingen EA; Jellum E; Stokke O
    Clin Chim Acta; 1981 Sep; 115(3):311-9. PubMed ID: 7296877
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.
    Choi HJ; Bang HI; Ki CS; Lee SY; Kim JW; Song J; Shin MR; Lee YW; Lee DH; Park HD
    Ann Clin Lab Sci; 2014; 44(3):317-23. PubMed ID: 25117105
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [The metabolic basis of the hyperphenylalaninemias and tyrosinemia].
    Shintaku H
    Nihon Rinsho; 1992 Jul; 50(7):1542-7. PubMed ID: 1357201
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
    Morrow G; Dreumont N; Bourrelle-Langlois M; Roy V; Tanguay RM
    Mol Genet Metab; 2019 May; 127(1):58-63. PubMed ID: 30954369
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice.
    Ruppert S; Kelsey G; Schedl A; Schmid E; Thies E; Schütz G
    Genes Dev; 1992 Aug; 6(8):1430-43. PubMed ID: 1644288
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
    Natt E; Kida K; Odievre M; Di Rocco M; Scherer G
    Proc Natl Acad Sci U S A; 1992 Oct; 89(19):9297-301. PubMed ID: 1357662
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
    Kvittingen EA; Rootwelt H; Brandtzaeg P; Bergan A; Berger R
    J Clin Invest; 1993 Apr; 91(4):1816-21. PubMed ID: 8473520
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
    Cardoso ML; Martins E; Vasconcelos R; Vilarinho L; Rocha J
    Hum Mutat; 1999 Oct; 14(4):355-6. PubMed ID: 10502833
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.
    Kvittingen EA; Halvorsen S; Jellum E
    Pediatr Res; 1983 Jul; 17(7):541-4. PubMed ID: 6622096
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
    Morrow G; Angileri F; Tanguay RM
    Adv Exp Med Biol; 2017; 959():25-48. PubMed ID: 28755182
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1.
    Kelsey G; Ruppert S; Beermann F; Grund C; Tanguay RM; Schütz G
    Genes Dev; 1993 Dec; 7(12A):2285-97. PubMed ID: 8253377
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [Hereditary tyrosinemia type I].
    Endo F
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):130-3. PubMed ID: 9590006
    [No Abstract]   [Full Text] [Related]  

  • 59. Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase.
    Grompe M; al-Dhalimy M
    Biochem Med Metab Biol; 1992 Aug; 48(1):26-31. PubMed ID: 1524868
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
    Ibarra-González I; Fernández-Lainez C; Alcántara-Ortigoza MA; González-Del Angel A; Fernández-Henández L; Guillén-López S; Belmont-Martínez L; López-Mejía L; Varela-Fascinetto G; Vela-Amieva M
    Mol Genet Genomic Med; 2019 Dec; 7(12):e937. PubMed ID: 31568711
    [TBL] [Abstract][Full Text] [Related]  

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