32668217,23792259,22513348,18835579,18538294,12501224,12185072,11935335,11461196,11385716,11180595,10679941,9852673,9792411,9792407,9634518,9600453,9521426,9452062,9450897,9101291,9048935,8889590,8889583,8364546,8098245,8088845,8068076,7833954,284095 - Search Results

Year	Number of Results
1988	1
1989	2
1990	1
1991	6
1992	4
1993	3
1994	2
1996	2
1997	2
1998	8
2000	1
2001	3
2002	3
2008	2
2012	1
2013	1
2020	1
2024	0

1

The Genetic Landscape and Epidemiology of Phenylketonuria.

Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.

2

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M. Trunzo R, et al. Clin Biochem. 2013 Dec;46(18):1896-8. doi: 10.1016/j.clinbiochem.2013.06.009. Epub 2013 Jun 18. Clin Biochem. 2013. PMID: 23792259

3

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T. Groselj U, et al. Mol Genet Metab. 2012 Jun;106(2):142-8. doi: 10.1016/j.ymgme.2012.03.015. Epub 2012 Apr 1. Mol Genet Metab. 2012. PMID: 22513348

4

The phylogeny of the aromatic amino acid hydroxylases revisited by characterizing phenylalanine hydroxylase from Dictyostelium discoideum.

Siltberg-Liberles J, Steen IH, Svebak RM, Martinez A. Siltberg-Liberles J, et al. Gene. 2008 Dec 31;427(1-2):86-92. doi: 10.1016/j.gene.2008.09.005. Epub 2008 Sep 16. Gene. 2008. PMID: 18835579

5

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. Gersting SW, et al. Am J Hum Genet. 2008 Jul;83(1):5-17. doi: 10.1016/j.ajhg.2008.05.013. Epub 2008 Jun 5. Am J Hum Genet. 2008. PMID: 18538294 Free PMC article.

6

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

Muntau AC, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA. Muntau AC, et al. N Engl J Med. 2002 Dec 26;347(26):2122-32. doi: 10.1056/NEJMoa021654. N Engl J Med. 2002. PMID: 12501224 Free article. Clinical Trial.

7

Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects.

Miranda FF, Teigen K, Thórólfsson M, Svebak RM, Knappskog PM, Flatmark T, Martínez A. Miranda FF, et al. J Biol Chem. 2002 Oct 25;277(43):40937-43. doi: 10.1074/jbc.M112197200. Epub 2002 Aug 15. J Biol Chem. 2002. PMID: 12185072 Free article.

8

Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

Chen KJ, Chao HK, Hsiao KJ, Su TS. Chen KJ, et al. Hum Genet. 2002 Mar;110(3):235-43. doi: 10.1007/s00439-002-0677-7. Epub 2002 Feb 5. Hum Genet. 2002. PMID: 11935335

9

A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.

Gjetting T, Romstad A, Haavik J, Knappskog PM, Acosta AX, Silva WA Jr, Zago MA, Guldberg P, Güttler F. Gjetting T, et al. Mol Genet Metab. 2001 Jul;73(3):280-4. doi: 10.1006/mgme.2001.3180. Mol Genet Metab. 2001. PMID: 11461196

10

Molecular analysis of phenylketonuria (PKU) in newborns from Texas.

Yang Y, Drummond-Borg M, Garcia-Heras J. Yang Y, et al. Hum Mutat. 2001 Jun;17(6):523. doi: 10.1002/humu.1141. Hum Mutat. 2001. PMID: 11385716

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