353 related articles for article (PubMed ID: 25757997)
1. Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Scala I; Concolino D; Della Casa R; Nastasi A; Ungaro C; Paladino S; Capaldo B; Ruoppolo M; Daniele A; Bonapace G; Strisciuglio P; Parenti G; Andria G
Orphanet J Rare Dis; 2015 Feb; 10():14. PubMed ID: 25757997
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. Does the 48-hour BH4 loading test miss responsive PKU patients?
van Wegberg AMJ; Evers RAF; van Dam E; de Vries MC; Janssen MCH; Heiner-Fokkema MR; van Spronsen FJ
Mol Genet Metab; 2020 Mar; 129(3):186-192. PubMed ID: 31924462
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.
Hennermann JB; Roloff S; Gebauer C; Vetter B; von Arnim-Baas A; Mönch E
Mol Genet Metab; 2012 Nov; 107(3):294-301. PubMed ID: 23062575
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.
Lambruschini N; Pérez-Dueñas B; Vilaseca MA; Mas A; Artuch R; Gassió R; Gómez L; Gutiérrez A; Campistol J
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S54-60. PubMed ID: 16040265
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.
Demirdas S; Maurice-Stam H; Boelen CC; Hofstede FC; Janssen MC; Langendonk JG; Mulder MF; Rubio-Gozalbo ME; van Spronsen FJ; de Vries M; Grootenhuis MA; Bosch AM
Mol Genet Metab; 2013; 110 Suppl():S49-56. PubMed ID: 24100246
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype.
Aldámiz-Echevarría L; Bueno MA; Couce ML; Lage S; Dalmau J; Vitoria I; Llarena M; Andrade F; Blasco J; Alcalde C; Gil D; García MC; González-Lamuño D; Ruiz M; Ruiz MA; Peña-Quintana L; González D; Sánchez-Valverde F
Mol Genet Metab; 2015 May; 115(1):10-6. PubMed ID: 25882749
[TBL] [Abstract][Full Text] [Related]
20. One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4).
Brantley KD; Douglas TD; Singh RH
Orphanet J Rare Dis; 2018 Oct; 13(1):192. PubMed ID: 30373601
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
