BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

350 related articles for article (PubMed ID: 15464430)

  • 1. Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
    Desviat LR; Pérez B; Bèlanger-Quintana A; Castro M; Aguado C; Sánchez A; García MJ; Martínez-Pardo M; Ugarte M
    Mol Genet Metab; 2004; 83(1-2):157-62. PubMed ID: 15464430
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.
    Bélanger-Quintana A; García MJ; Castro M; Desviat LR; Pérez B; Mejía B; Ugarte M; Martínez-Pardo M
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S61-6. PubMed ID: 16165389
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
    Fiori L; Fiege B; Riva E; Giovannini M
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S67-74. PubMed ID: 16198137
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
    Fiege B; Bonafé L; Ballhausen D; Baumgartner M; Thöny B; Meili D; Fiori L; Giovannini M; Blau N
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S91-5. PubMed ID: 16290003
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
    Pérez-Dueñas B; Vilaseca MA; Mas A; Lambruschini N; Artuch R; Gómez L; Pineda J; Gutiérrez A; Mila M; Campistol J
    Clin Biochem; 2004 Dec; 37(12):1083-90. PubMed ID: 15589814
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
    Trefz FK; Blau N
    Pediatrics; 2003 Dec; 112(6 Pt 2):1566-9. PubMed ID: 14654666
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients].
    Yang L; Zhang ZX; Ye J; Zhou ZS; Shen M; Han LS; Qiu W; Yu WM; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):310-3. PubMed ID: 17557244
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Kure S; Sato K; Fujii K; Aoki Y; Suzuki Y; Kato S; Matsubara Y
    Mol Genet Metab; 2004; 83(1-2):150-6. PubMed ID: 15464429
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.
    Hennermann JB; Bührer C; Blau N; Vetter B; Mönch E
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S86-90. PubMed ID: 16051511
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Assessment of tetrahydrobiopterin responsiveness in Turkish hyperphenylalaninemic patients.
    Yildirim S; Tokatli A; Yilmaz E; Coşkun T
    Turk J Pediatr; 2007; 49(1):1-6. PubMed ID: 17479638
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
    Karacić I; Meili D; Sarnavka V; Heintz C; Thöny B; Ramadza DP; Fumić K; Mardesić D; Barić I; Blau N
    Mol Genet Metab; 2009 Jul; 97(3):165-71. PubMed ID: 19394257
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.