863 related articles for article (PubMed ID: 17517248)
1. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.
Fiege B; Blau N
J Pediatr; 2007 Jun; 150(6):627-30. PubMed ID: 17517248
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
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. 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]
6. [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]
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. 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]
9. 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]
10. Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.
Mitchell JJ; Wilcken B; Alexander I; Ellaway C; O'Grady H; Wiley V; Earl J; Christodoulou J
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S81-5. PubMed ID: 16091307
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.
Trefz FK; Scheible D; Frauendienst-Egger G; Korall H; Blau N
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S75-80. PubMed ID: 16242984
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Keil S; Anjema K; van Spronsen FJ; Lambruschini N; Burlina A; Bélanger-Quintana A; Couce ML; Feillet F; Cerone R; Lotz-Havla AS; Muntau AC; Bosch AM; Meli CA; Billette de Villemeur T; Kern I; Riva E; Giovannini M; Damaj L; Leuzzi V; Blau N
Pediatrics; 2013 Jun; 131(6):e1881-8. PubMed ID: 23690520
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Muntau AC; Röschinger W; Habich M; Demmelmair H; Hoffmann B; Sommerhoff CP; Roscher AA
N Engl J Med; 2002 Dec; 347(26):2122-32. PubMed ID: 12501224
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]