565 related articles for article (PubMed ID: 11405341)
1. A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
Erlandsen H; Stevens RC
J Inherit Metab Dis; 2001 Apr; 24(2):213-30. PubMed ID: 11405341
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Polak E; Ficek A; Radvanszky J; Soltysova A; Urge O; Cmelova E; Kantarska D; Kadasi L
Gene; 2013 Sep; 526(2):347-55. PubMed ID: 23764561
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Erlandsen H; Pey AL; Gámez A; Pérez B; Desviat LR; Aguado C; Koch R; Surendran S; Tyring S; Matalon R; Scriver CR; Ugarte M; Martínez A; Stevens RC
Proc Natl Acad Sci U S A; 2004 Nov; 101(48):16903-8. PubMed ID: 15557004
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.
Bóveda MD; Couce ML; Castiñeiras DE; Cocho JA; Pérez B; Ugarte M; Fraga JM
J Inherit Metab Dis; 2007 Oct; 30(5):812. PubMed ID: 17603758
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. New protein structures provide an updated understanding of phenylketonuria.
Jaffe EK
Mol Genet Metab; 2017 Aug; 121(4):289-296. PubMed ID: 28645531
[TBL] [Abstract][Full Text] [Related]
14. Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years.
Shintaku H; Ohwada M; Aoki K; Kitagawa T; Yamano T
Ann Acad Med Singap; 2008 Dec; 37(12 Suppl):77-2. PubMed ID: 19904458
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.
Porta F; Spada M; Ponzone A
Pediatrics; 2017 Aug; 140(2):. PubMed ID: 28679641
[TBL] [Abstract][Full Text] [Related]
18. Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.
Michals-Matalon K
Expert Opin Investig Drugs; 2008 Feb; 17(2):245-51. PubMed ID: 18230057
[TBL] [Abstract][Full Text] [Related]
19. Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia.
Gramer G; Burgard P; Garbade SF; Lindner M
J Inherit Metab Dis; 2007 Aug; 30(4):556-62. PubMed ID: 17680344
[TBL] [Abstract][Full Text] [Related]
20. Genotype-phenotype correlations and BH
Vieira Neto E; Laranjeira F; Quelhas D; Ribeiro I; Seabra A; Mineiro N; Carvalho LM; Lacerda L; Ribeiro MG
Mol Genet Genomic Med; 2019 May; 7(5):e610. PubMed ID: 30829006
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
