Dobrowolski SF - Search Results

1

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Among authors: dobrowolski sf. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081

2

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH. Quirk ME, et al. Among authors: dobrowolski sf. Mol Genet Metab. 2012 Sep;107(1-2):31-6. doi: 10.1016/j.ymgme.2012.07.008. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22841515 Free PMC article.

3

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

Rajabi F, Rohr F, Wessel A, Martell L, Dobrowolski SF, Guldberg P, Güttler F, Levy HL. Rajabi F, et al. Among authors: dobrowolski sf. Mol Genet Metab. 2019 Dec;128(4):415-421. doi: 10.1016/j.ymgme.2019.09.004. Epub 2019 Sep 14. Mol Genet Metab. 2019. PMID: 31623983

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. Dobrowolski SF, et al. J Hum Genet. 2009 Jun;54(6):335-9. doi: 10.1038/jhg.2009.37. Epub 2009 May 15. J Hum Genet. 2009. PMID: 19444284

5

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

6

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

Heintz C, Dobrowolski SF, Andersen HS, Demirkol M, Blau N, Andresen BS. Heintz C, et al. Among authors: dobrowolski sf. Mol Genet Metab. 2012 Aug;106(4):403-11. doi: 10.1016/j.ymgme.2012.05.013. Epub 2012 May 29. Mol Genet Metab. 2012. PMID: 22698810 Free article.

7

Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity.

Dobrowolski SF, Phua YL, Vockley J, Goetzman E, Blair HC. Dobrowolski SF, et al. Mol Genet Metab. 2022 Jun;136(2):111-117. doi: 10.1016/j.ymgme.2022.03.012. Epub 2022 Mar 29. Mol Genet Metab. 2022. PMID: 35379539 Free PMC article. Review.

8

Altered DNA methylation in PAH deficient phenylketonuria.

Dobrowolski SF, Lyons-Weiler J, Spridik K, Biery A, Breck J, Vockley J, Yatsenko S, Sultana T. Dobrowolski SF, et al. Mol Genet Metab. 2015 Jun-Jul;115(2-3):72-7. doi: 10.1016/j.ymgme.2015.04.002. Epub 2015 Apr 24. Mol Genet Metab. 2015. PMID: 25990862

9

DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.

Dobrowolski SF, Lyons-Weiler J, Spridik K, Vockley J, Skvorak K, Biery A. Dobrowolski SF, et al. Mol Genet Metab. 2016 Sep;119(1-2):1-7. doi: 10.1016/j.ymgme.2016.01.001. Epub 2016 Jan 14. Mol Genet Metab. 2016. PMID: 26822703 Free PMC article.

10

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. Dobrowolski SF, et al. Mol Genet Metab. 2007 Jul;91(3):218-27. doi: 10.1016/j.ymgme.2007.03.010. Epub 2007 May 14. Mol Genet Metab. 2007. PMID: 17502162

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