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Results: 1 to 20 of 106

1.

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.

Clin Biochem. 2013 Dec;46(18):1896-8. doi: 10.1016/j.clinbiochem.2013.06.009. Epub 2013 Jun 18.

PMID:
23792259
[PubMed - in process]
2.

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]
3.

Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.

Güttler F, Guldberg P.

Acta Paediatr Suppl. 1994 Dec;407:49-56. Review.

PMID:
7766959
[PubMed - indexed for MEDLINE]
4.

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
5.

Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.

Eisensmith RC, Martinez DR, Kuzmin AI, Goltsov AA, Brown A, Singh R, Elsas LJ II, Woo SL.

Pediatrics. 1996 Apr;97(4):512-6.

PMID:
8632937
[PubMed - indexed for MEDLINE]
6.

Mutation spectrum of phenylketonuria in Syrian population: genotype-phenotype correlation.

Murad H, Dabboul A, Moassas F, Alasmar D, Al-Achkar W.

Gene. 2013 Oct 10;528(2):241-7. doi: 10.1016/j.gene.2013.07.001. Epub 2013 Jul 12.

PMID:
23856132
[PubMed - indexed for MEDLINE]
7.

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.

Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Milà M.

Hum Genet. 1999 Nov;105(5):468-73.

PMID:
10598814
[PubMed - indexed for MEDLINE]
8.

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Zhu T, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X.

Gene. 2013 Oct 15;529(1):80-7. doi: 10.1016/j.gene.2013.07.079. Epub 2013 Aug 7.

PMID:
23932990
[PubMed - indexed for MEDLINE]
9.

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis.

Mirisola MG, Cali F, Gloria A, Schinocca P, D'Amato M, Cassara G, Leo GD, Palillo L, Meli C, Romano V.

Mol Genet Metab. 2001 Nov;74(3):353-61.

PMID:
11708866
[PubMed - indexed for MEDLINE]
10.

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.

Svensson E, von Döbeln U, Eisensmith RC, Hagenfeldt L, Woo SL.

Eur J Pediatr. 1993 Feb;152(2):132-9.

PMID:
8444221
[PubMed - indexed for MEDLINE]
11.

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray JM, Munnich A, Rey J.

Arch Fr Pediatr. 1992 Oct;49(8):705-10. French.

PMID:
1288453
[PubMed - indexed for MEDLINE]
12.

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]
13.

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Guldberg P, Rey F, Zschocke J, Romano V, François B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Güttler F.

Am J Hum Genet. 1998 Jul;63(1):71-9. Erratum in: Am J Hum Genet 1998 Oct;63(4):1252-3.

PMID:
9634518
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Correra A, Pignero A, Castaldo G, Salvatore F.

Ann Hum Genet. 2007 Mar;71(Pt 2):185-93. Epub 2006 Nov 10.

PMID:
17096675
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

[Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].

Shu JB, Meng YT, Dang LH, Fu BJ, Song L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):635-41. doi: 10.3760/cma.j.issn.1003-9406.2012.06.003. Chinese.

PMID:
23225039
[PubMed - indexed for MEDLINE]
17.

Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study.

Treacy EP, Delente JJ, Elkas G, Carter K, Lambert M, Waters PJ, Scriver CR.

Pediatr Res. 1997 Oct;42(4):430-5.

PMID:
9380432
[PubMed - indexed for MEDLINE]
18.

Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

Réblová K, Hrubá Z, Procházková D, Pazdírková R, Pouchlá S, Zeman J, Fajkusová L.

Clin Chim Acta. 2013 Apr 18;419:1-10. doi: 10.1016/j.cca.2013.01.006. Epub 2013 Jan 26. Erratum in: Clin Chim Acta. 2013 Nov 15;426:157. Zeman, Jiří [added].

PMID:
23357515
[PubMed - indexed for MEDLINE]
19.

Molecular characterization of phenylketonuria in Japanese patients.

Okano Y, Asada M, Kang Y, Nishi Y, Hase Y, Oura T, Isshiki G.

Hum Genet. 1998 Nov;103(5):613-8.

PMID:
9860305
[PubMed - indexed for MEDLINE]
20.

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Guldberg P, Levy HL, Hanley WB, Koch R, Matalon R, Rouse BM, Trefz F, de la Cruz F, Henriksen KF, Güttler F.

Am J Hum Genet. 1996 Jul;59(1):84-94.

PMID:
8659548
[PubMed - indexed for MEDLINE]
Free PMC Article

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