332 related articles for article (PubMed ID: 25466353)
1. BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.
van Vliet D; Anjema K; Jahja R; de Groot MJ; Liemburg GB; Heiner-Fokkema MR; van der Zee EA; Derks TG; Kema IP; van Spronsen FJ
Mol Genet Metab; 2015 Jan; 114(1):29-33. PubMed ID: 25466353
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).
Burton BK; Bausell H; Katz R; Laduca H; Sullivan C
Mol Genet Metab; 2010; 101(2-3):110-4. PubMed ID: 20638313
[TBL] [Abstract][Full Text] [Related]
5. High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).
Winn SR; Scherer T; Thöny B; Harding CO
Mol Genet Metab; 2016 Jan; 117(1):5-11. PubMed ID: 26653793
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.
Evers RAF; van Vliet D; van Spronsen FJ
J Inherit Metab Dis; 2020 Mar; 43(2):189-199. PubMed ID: 31373030
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters.
Yano S; Moseley K; Fu X; Azen C
PLoS One; 2016; 11(8):e0160892. PubMed ID: 27513937
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.
Douglas TD; Jinnah HA; Bernhard D; Singh RH
Mol Genet Metab; 2013 Jul; 109(3):243-50. PubMed ID: 23712020
[TBL] [Abstract][Full Text] [Related]
17. 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]
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. 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]
20. [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]
[Next] [New Search]