599 related articles for article (PubMed ID: 12501224)
1. 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]
2. 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]
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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. [Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics].
Bik-Multanowski M; Pietrzyk JJ
Przegl Lek; 2009; 66(1-2):1-3. PubMed ID: 19485247
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
Heintz C; Cotton RG; Blau N
Hum Mutat; 2013 Jul; 34(7):927-36. PubMed ID: 23559577
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Daniele A; Scala I; Cardillo G; Pennino C; Ungaro C; Sibilio M; Parenti G; Esposito L; Zagari A; Andria G; Salvatore F
FEBS J; 2009 Apr; 276(7):2048-59. PubMed ID: 19292873
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
Shintaku H; Kure S; Ohura T; Okano Y; Ohwada M; Sugiyama N; Sakura N; Yoshida I; Yoshino M; Matsubara Y; Suzuki K; Aoki K; Kitagawa T
Pediatr Res; 2004 Mar; 55(3):425-30. PubMed ID: 14681498
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
