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Results: 1 to 20 of 369

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
[PubMed - indexed for MEDLINE]
2.
3.

The structural basis of phenylketonuria.

Erlandsen H, Stevens RC.

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

PMID:
10527663
[PubMed - indexed for MEDLINE]
4.

Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.

Wang L, Surendran S, Michals-Matalon K, Bhatia G, Tanskley S, Koch R, Grady J, Tyring SK, Stevens RC, Guttler F, Matalon R.

Genet Test. 2007 Summer;11(2):174-8.

PMID:
17627389
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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. Review.

PMID:
11405341
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC.

Am J Hum Genet. 2008 Jul;83(1):5-17. doi: 10.1016/j.ajhg.2008.05.013. Epub 2008 Jun 5.

PMID:
18538294
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR.

Am J Hum Genet. 1997 Dec;61(6):1309-17.

PMID:
9399896
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
12501224
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
19.

[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
[PubMed - indexed for MEDLINE]
20.

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. doi: 10.1016/j.ymgme.2009.03.009. Epub 2009 Apr 1.

PMID:
19394257
[PubMed - indexed for MEDLINE]
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