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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

216 related articles for article (PubMed ID: 9427141)

  • 1. Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer.
    Lin CM; Tan Y; Lee YM; Chang CC; Hsiao KJ
    J Inherit Metab Dis; 1997 Nov; 20(6):742-54. PubMed ID: 9427141
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes.
    Christensen R; Kolvraa S; Blaese RM; Jensen TG
    Gene Ther; 2000 Dec; 7(23):1971-8. PubMed ID: 11175307
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
    Pey AL; Pérez B; Desviat LR; Martínez MA; Aguado C; Erlandsen H; Gámez A; Stevens RC; Thórólfsson M; Ugarte M; Martínez A
    Hum Mutat; 2004 Nov; 24(5):388-99. PubMed ID: 15459954
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
    Klaassen K; Djordjevic M; Skakic A; Desviat LR; Pavlovic S; Perez B; Stojiljkovic M
    Biochem Genet; 2018 Oct; 56(5):533-541. PubMed ID: 29654578
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
    Thöny B; Ding Z; Martínez A
    FEBS Lett; 2004 Nov; 577(3):507-11. PubMed ID: 15556637
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
    Matalon R; Michals-Matalon K; Koch R; Grady J; Tyring S; Stevens RC
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S17-21. PubMed ID: 16143554
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetics of Phenylketonuria: Then and Now.
    Blau N
    Hum Mutat; 2016 Jun; 37(6):508-15. PubMed ID: 26919687
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
    Zhang Z; Gao JJ; Feng Y; Zhu LL; Yan H; Shi XF; Chang AM; Shi Y; Wang P
    Scand J Clin Lab Invest; 2018 May; 78(3):211-218. PubMed ID: 29390883
    [TBL] [Abstract][Full Text] [Related]  

  • 9. In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Okano Y; Hase Y; Kawajiri M; Nishi Y; Inui K; Sakai N; Tanaka Y; Takatori K; Kajiwara M; Yamano T
    Pediatr Res; 2004 Nov; 56(5):714-9. PubMed ID: 15319459
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Blau N; Erlandsen H
    Mol Genet Metab; 2004 Jun; 82(2):101-11. PubMed ID: 15171997
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
    Wang L; Surendran S; Michals-Matalon K; Bhatia G; Tanskley S; Koch R; Grady J; Tyring SK; Stevens RC; Guttler F; Matalon R
    Genet Test; 2007; 11(2):174-8. PubMed ID: 17627389
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer.
    Oh HJ; Park ES; Kang S; Jo I; Jung SC
    Pediatr Res; 2004 Aug; 56(2):278-84. PubMed ID: 15181195
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study.
    Pey AL; Martinez A
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S43-53. PubMed ID: 15936235
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biopterin responsive phenylalanine hydroxylase deficiency.
    Matalon R; Koch R; Michals-Matalon K; Moseley K; Surendran S; Tyring S; Erlandsen H; Gamez A; Stevens RC; Romstad A; Møller LB; Guttler F
    Genet Med; 2004; 6(1):27-32. PubMed ID: 14726806
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy.
    Chen L; Thung SN; Woo SL
    Mol Ther; 2007 Jun; 15(6):1079-85. PubMed ID: 17406346
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
    Ponzone A; Porta F; Mussa A; Alluto A; Ferraris S; Spada M
    Metabolism; 2010 May; 59(5):645-52. PubMed ID: 19913839
    [TBL] [Abstract][Full Text] [Related]  

  • 17. BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
    Aguado C; Pérez B; García MJ; Bélanger-Quintana A; Martínez-Pardo M; Ugarte M; Desviat LR
    Clin Chim Acta; 2007 May; 380(1-2):8-12. PubMed ID: 17408607
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Gene therapy for phenylketonuria.
    Eisensmith RC; Woo SL
    Acta Paediatr Suppl; 1994 Dec; 407():124-9. PubMed ID: 7766948
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice.
    Harding CO; Neff M; Jones K; Wild K; Wolff JA
    J Gene Med; 2003 Nov; 5(11):984-93. PubMed ID: 14601136
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice.
    Liu TJ; Kay MA; Darlington GJ; Woo SL
    Somat Cell Mol Genet; 1992 Jan; 18(1):89-96. PubMed ID: 1312261
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.