347 related articles for article (PubMed ID: 26322415)
1. Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao J; Li N; Jia H; Liu Z; Li X; Song J; Deng Y; Jin X; Zhu J
Pediatr Res; 2015 Dec; 78(6):691-9. PubMed ID: 26322415
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Karacić I; Meili D; Sarnavka V; Heintz C; Thöny B; Ramadza DP; Fumić K; Mardesić D; Barić I; Blau N
Mol Genet Metab; 2009 Jul; 97(3):165-71. PubMed ID: 19394257
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
Aguado C; Pérez B; García MJ; Bélanger-Quintana A; Martínez-Pardo M; Ugarte M; Desviat LR
Clin Chim Acta; 2007 May; 380(1-2):8-12. PubMed ID: 17408607
[TBL] [Abstract][Full Text] [Related]
7. Mutational spectrum of phenylketonuria in Jiangsu province.
Chen YF; Jia HT; Chen ZH; Song JP; Liang Y; Pei JJ; Wu ZJ; Wang J; Qiu YL; Liu G; Sun DM; Jiang XY
Eur J Pediatr; 2015 Oct; 174(10):1333-8. PubMed ID: 25894915
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L; Llarena M; Bueno MA; Dalmau J; Vitoria I; Fernández-Marmiesse A; 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; Desviat LR; Pérez B; Couce ML
J Hum Genet; 2016 Aug; 61(8):731-44. PubMed ID: 27121329
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.
Lässker U; Zschocke J; Blau N; Santer R
J Inherit Metab Dis; 2002 Feb; 25(1):65-70. PubMed ID: 11999982
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Dobrowolski SF; Heintz C; Miller T; Ellingson C; Ellingson C; Ozer I; Gökçay G; Baykal T; Thöny B; Demirkol M; Blau N
Mol Genet Metab; 2011 Feb; 102(2):116-21. PubMed ID: 21147011
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E; Feillet F; Chéry C; Perrin P; Battaglia-Hsu SF; Herbeth B; Cano A; Barth M; Fouilhoux A; Mention K; Labarthe F; Arnoux JB; Maillot F; Lenaerts C; Dumesnil C; Wagner K; Terral D; Broué P; de Parscau L; Gay C; Kuster A; Bédu A; Besson G; Lamireau D; Odent S; Masurel A; Guéant JL; Namour F
Orphanet J Rare Dis; 2015 Dec; 10():158. PubMed ID: 26666653
[TBL] [Abstract][Full Text] [Related]
16. Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Vela-Amieva M; Abreu-González M; González-del Angel A; Ibarra-González I; Fernández-Lainez C; Barrientos-Ríos R; Monroy-Santoyo S; Guillén-López S; Alcántara-Ortigoza MA
Clin Genet; 2015 Jul; 88(1):62-7. PubMed ID: 24941924
[TBL] [Abstract][Full Text] [Related]
17. Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
Bik-Multanowski M; Kaluzny L; Mozrzymas R; Oltarzewski M; Starostecka E; Lange A; Didycz B; Gizewska M; Ulewicz-Filipowicz J; Chrobot A; Mikoluc B; Szymczakiewicz-Multanowska A; Cichy W; Pietrzyk JJ
Acta Biochim Pol; 2013; 60(4):613-6. PubMed ID: 24350308
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]