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Items: 1 to 20 of 367

1.

Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.

Erlandsen H, Patch MG, Gamez A, Straub M, Stevens RC.

Pediatrics. 2003 Dec;112(6 Pt 2):1557-65. Review.

PMID:
14654665
3.

The structural basis of phenylketonuria.

Erlandsen H, Stevens RC.

Mol Genet Metab. 1999 Oct;68(2):103-25. Review.

PMID:
10527663
4.

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. doi: 10.1038/jhg.2009.37. Epub 2009 May 15.

PMID:
19444284
5.

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. doi: 10.1038/jhg.2011.10. Epub 2011 Feb 10.

PMID:
21307867
6.
7.

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.

PMID:
17935162
8.

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 10;526(2):347-55. doi: 10.1016/j.gene.2013.05.057. Epub 2013 Jun 10.

PMID:
23764561
9.

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Trefz FK, Scheible D, Götz H, Frauendienst-Egger G.

J Inherit Metab Dis. 2009 Feb;32(1):22-6. doi: 10.1007/s10545-008-0940-8. Epub 2008 Oct 30.

PMID:
18956252
10.

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.

Kim SW, Jung J, Oh HJ, Kim J, Lee KS, Lee DH, Park C, Kimm K, Koo SK, Jung SC.

Clin Chim Acta. 2006 Mar;365(1-2):279-87. Epub 2005 Oct 25.

PMID:
16253218
11.

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 26;347(26):2122-32.

12.

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. doi: 10.1002/humu.22320. Epub 2013 May 1. Review.

PMID:
23559577
13.

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.

Waters PJ, Parniak MA, Akerman BR, Scriver CR.

Mol Genet Metab. 2000 Feb;69(2):101-10. Erratum in: Mol Genet Metab 2001 Jan;72(1):89.

PMID:
10720436
14.

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.

PMID:
15459954
16.

[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. Chinese.

PMID:
18247293
17.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

Spaapen LJ, Rubio-Gozalbo ME.

Mol Genet Metab. 2003 Feb;78(2):93-9. Review.

PMID:
12618080
18.

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. Epub 2005 Sep 28.

PMID:
16198137
19.

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. Epub 2005 Sep 6.

PMID:
16143554
20.

Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.

Gersting SW, Staudigl M, Truger MS, Messing DD, Danecka MK, Sommerhoff CP, Kemter KF, Muntau AC.

J Biol Chem. 2010 Oct 1;285(40):30686-97. doi: 10.1074/jbc.M110.124016. Epub 2010 Jul 27.

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