Similar articles for PMID: 22300847

Year	Number of Results
1958	1
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1

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

Heintz C, Troxler H, Martinez A, Thöny B, Blau N. Heintz C, et al. Mol Genet Metab. 2012 Apr;105(4):559-65. doi: 10.1016/j.ymgme.2011.12.025. Epub 2012 Jan 12. Mol Genet Metab. 2012. PMID: 22300847 Free article.

2

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.

Shen N, Heintz C, Thiel C, Okun JG, Hoffmann GF, Blau N. Shen N, et al. Mol Genet Metab. 2016 Mar;117(3):328-35. doi: 10.1016/j.ymgme.2016.01.004. Epub 2016 Jan 12. Mol Genet Metab. 2016. PMID: 26803807

3

In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.

Zhang X, Ye J, Shen N, Tao Y, Han L, Qiu W, Zhang H, Liang L, Fan Y, Wang J, Gong Z, Wang Y, You G, Fu Q, Mo X, Gu X, Yu Y. Zhang X, et al. Gene. 2019 Jul 30;707:239-245. doi: 10.1016/j.gene.2019.05.029. Epub 2019 May 15. Gene. 2019. PMID: 31102715

4

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. Dobrowolski SF, et al. Mol Genet Metab. 2011 Feb;102(2):116-21. doi: 10.1016/j.ymgme.2010.11.158. Epub 2010 Nov 18. Mol Genet Metab. 2011. PMID: 21147011

5

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.

Staudigl M, Gersting SW, Danecka MK, Messing DD, Woidy M, Pinkas D, Kemter KF, Blau N, Muntau AC. Staudigl M, et al. Hum Mol Genet. 2011 Jul 1;20(13):2628-41. doi: 10.1093/hmg/ddr165. Epub 2011 Apr 28. Hum Mol Genet. 2011. PMID: 21527427 Free article.

6

New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Lagler FB, Gersting SW, Zsifkovits C, Steinbacher A, Eichinger A, Danecka MK, Staudigl M, Fingerhut R, Glossmann H, Muntau AC. Lagler FB, et al. Biochem Pharmacol. 2010 Nov 15;80(10):1563-71. doi: 10.1016/j.bcp.2010.07.042. Epub 2010 Aug 10. Biochem Pharmacol. 2010. PMID: 20705059

7

The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.

Steventon GB, Mitchell SC, Pérez B, Desviat LR, Ugarte M. Steventon GB, et al. Mol Genet Metab. 2009 Jan;96(1):27-31. doi: 10.1016/j.ymgme.2008.10.011. Epub 2008 Nov 25. Mol Genet Metab. 2009. PMID: 19036622

8

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. Pey AL, et al. Hum Mutat. 2004 Nov;24(5):388-99. doi: 10.1002/humu.20097. Hum Mutat. 2004. PMID: 15459954

9

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M. Ponzone A, et al. Metabolism. 2010 May;59(5):645-52. doi: 10.1016/j.metabol.2009.09.008. Epub 2009 Nov 14. Metabolism. 2010. PMID: 19913839

10

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. Polak E, et al. Gene. 2013 Sep 10;526(2):347-55. doi: 10.1016/j.gene.2013.05.057. Epub 2013 Jun 10. Gene. 2013. PMID: 23764561

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