521 related articles for article (PubMed ID: 17502162)
1. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Dobrowolski SF; Ellingson C; Coyne T; Grey J; Martin R; Naylor EW; Koch R; Levy HL
Mol Genet Metab; 2007 Jul; 91(3):218-27. PubMed ID: 17502162
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Kasnauskiene J; Cimbalistiene L; Kucinskas V
Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Eisensmith RC; Martinez DR; Kuzmin AI; Goltsov AA; Brown A; Singh R; Elsas LJ II; Woo SL
Pediatrics; 1996 Apr; 97(4):512-6. PubMed ID: 8632937
[TBL] [Abstract][Full Text] [Related]
7. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A; Silva W; Carvalho T; Gomes M; Zago M
Hum Mutat; 2001 Feb; 17(2):122-30. PubMed ID: 11180595
[TBL] [Abstract][Full Text] [Related]
8. The PAH gene, phenylketonuria, and a paradigm shift.
Scriver CR
Hum Mutat; 2007 Sep; 28(9):831-45. PubMed ID: 17443661
[TBL] [Abstract][Full Text] [Related]
9. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
Song F; Jin YW; Wang H; Yang YL; Zhang YM; Zhang T
Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
[TBL] [Abstract][Full Text] [Related]
10. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Acosta AX; Silva WA; Carvalho TM; Zago MA
Hum Mutat; 2001; 17(1):77. PubMed ID: 11139255
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A; Cardillo G; Pennino C; Carbone MT; Scognamiglio D; Correra A; Pignero A; Castaldo G; Salvatore F
Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
[TBL] [Abstract][Full Text] [Related]
13. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y; Drummond-Borg M; Garcia-Heras J
Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. The molecular basis of phenylketonuria in Lithuania.
Kasnauskiene J; Giannattasio S; Lattanzio P; Cimbalistiene L; Kucinskas V
Hum Mutat; 2003 Apr; 21(4):398. PubMed ID: 12655550
[TBL] [Abstract][Full Text] [Related]
17. [In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene].
Song F; Qu Y; Okano Y; Ye Z; Zhang Y; Jin Y; Wang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):1-5. PubMed ID: 18247293
[TBL] [Abstract][Full Text] [Related]
18. [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
Zhang J; Meng J; Zhai X; Fang G; Gao J; Shi M; Wang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):134-7. PubMed ID: 15793771
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Güttler F; Azen C; Guldberg P; Romstad A; Hanley WB; Levy HL; Matalon R; Rouse BM; Trefz F; de la Cruz F; Koch R
Pediatrics; 2003 Dec; 112(6 Pt 2):1530-3. PubMed ID: 14654659
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
