BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 22330942)

  • 1. The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
    Georgiou T; Ho G; Vogazianos M; Dionysiou M; Nicolaou A; Chappa G; Nicolaides P; Stylianidou G; Christodoulou J; Drousiotou A
    Clin Biochem; 2012 May; 45(7-8):588-92. PubMed ID: 22330942
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
    Daniele A; Cardillo G; Pennino C; Carbone MT; Scognamiglio D; Correra A; Pignero A; Castaldo G; Salvatore F
    Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.
    Lindner M; Haas D; Mayatepek E; Zschocke J; Burgard P
    Mol Genet Metab; 2001 May; 73(1):104-6. PubMed ID: 11350190
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
    Groselj U; Tansek MZ; Kovac J; Hovnik T; Podkrajsek KT; Battelino T
    Mol Genet Metab; 2012 Jun; 106(2):142-8. PubMed ID: 22513348
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation analysis in hyperphenylalaninemia patients from South Italy.
    Trunzo R; Santacroce R; D'Andrea G; Longo V; De Girolamo G; Dimatteo C; Leccese A; Lillo V; Papadia F; Margaglione M
    Clin Biochem; 2013 Dec; 46(18):1896-8. PubMed ID: 23792259
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
    Couce ML; Bóveda MD; Fernández-Marmiesse A; Mirás A; Pérez B; Desviat LR; Fraga JM
    Gene; 2013 May; 521(1):100-4. PubMed ID: 23500595
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Zurflüh MR; Zschocke J; Lindner M; Feillet F; Chery C; Burlina A; Stevens RC; Thöny B; Blau N
    Hum Mutat; 2008 Jan; 29(1):167-75. PubMed ID: 17935162
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
    Dobrowolski SF; Borski K; Ellingson CC; Koch R; Levy HL; Naylor EW
    J Hum Genet; 2009 Jun; 54(6):335-9. PubMed ID: 19444284
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
    Rivera I; Mendes D; Afonso Â; Barroso M; Ramos R; Janeiro P; Oliveira A; Gaspar A; Tavares de Almeida I
    Mol Genet Metab; 2011; 104 Suppl():S86-92. PubMed ID: 21871829
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
    Okano Y; Kudo S; Nishi Y; Sakaguchi T; Aso K
    J Hum Genet; 2011 Apr; 56(4):306-12. PubMed ID: 21307867
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
    Lindner M; Steinfeld R; Burgard P; Schulze A; Mayatepek E; Zschocke J
    Hum Mutat; 2003 Apr; 21(4):400. PubMed ID: 12655554
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Frequencies of the most common mutations responsible for phenylketonuria in Poland.
    Zekanowski C; Nowacka M; Zgulska M; Horst J; Cabalska B; Mazurczak T
    Mol Cell Probes; 1994 Aug; 8(4):323-4. PubMed ID: 7870074
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
    Feillet F; Chery C; Namour F; Kimmoun A; Favre E; Lorentz E; Battaglia-Hsu SF; Guéant JL
    Early Hum Dev; 2008 Sep; 84(9):561-7. PubMed ID: 18321666
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
    Yang Y; Drummond-Borg M; Garcia-Heras J
    Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Kure S; Hou DC; Ohura T; Iwamoto H; Suzuki S; Sugiyama N; Sakamoto O; Fujii K; Matsubara Y; Narisawa K
    J Pediatr; 1999 Sep; 135(3):375-8. PubMed ID: 10484807
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
    Dahri S; Desviat LR; Pérez B; Leal F; Ugarte M; Chabraoui L
    Clin Biochem; 2010 Jan; 43(1-2):76-81. PubMed ID: 19786003
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
    Karam PE; Alhamra RS; Nemer G; Usta J
    Gene; 2013 Feb; 515(1):117-22. PubMed ID: 23220018
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
    Ledley FD; Levy HL; Woo SL
    N Engl J Med; 1986 May; 314(20):1276-80. PubMed ID: 3702929
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
    Steinfeld R; Kohlschütter A; Ullrich K; Lukacs Z
    Amino Acids; 2003 Jul; 25(1):63-8. PubMed ID: 12836060
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Plasma biopterin levels and tetrahydrobiopterin responsiveness.
    Shintaku H; Fujioka H; Sawada Y; Asada M; Yamano T
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S104-6. PubMed ID: 16183315
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.