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Items: 1 to 20 of 194

1.

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
2.

[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].

Zhao D, Li X, Jia C, Ni M, Kong X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):300-5. doi: 10.3760/cma.j.issn.1003-9406.2016.03.005. Chinese.

PMID:
27264808
3.

[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
4.

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
5.

Variations in genotype-phenotype correlations in phenylketonuria patients.

Santos LL, Fonseca CG, Starling AL, Januário JN, Aguiar MJ, Peixoto MG, Carvalho MR.

Genet Mol Res. 2010 Jan 5;9(1):1-8. doi: 10.4238/vol9-1gmr670.

6.

[Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].

Qu YJ, Song F, Jin YW, Wang H, Zhang YM, Qin JL, Qiu L.

Zhonghua Er Ke Za Zhi. 2008 Feb;46(2):115-9. Chinese.

PMID:
19099685
7.
8.

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
9.

Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.

Zhu T, Qin S, Ye J, Qiu W, Han L, Zhang Y, Gu X.

Pediatr Res. 2010 Mar;67(3):280-5. doi: 10.1203/PDR.0b013e3181c9fb85.

PMID:
19915519
10.

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

Bercovich D, Elimelech A, Zlotogora J, Korem S, Yardeni T, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y.

J Hum Genet. 2008;53(5):407-18. doi: 10.1007/s10038-008-0264-4. Epub 2008 Feb 26.

PMID:
18299955
11.

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
12.

[The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese].

Song F, Qu YJ, Yang YL, Jin YW, Zhang YM, Wang H, Yu WZ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Jun;24(3):241-6. Chinese.

PMID:
17557229
13.

[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].

Zhu W, Chen H, Su Y, Zhao H, Wang J, Zhou J, Chen Y, Zen Y, Lin F, Zhang H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):158-62. doi: 10.3760/cma.j.issn.1003-9406.2015.02.002. Chinese.

PMID:
25863076
14.

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
15.

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
16.

[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].

Gao WH, Zhang QB, Liu JP, Yang JP, Zhang GX, Ma YX, Zhang XG, Yu L, Zhou YA.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):393-6. doi: 10.3760/cma.j.issn.1003-9406.2011.04.007. Chinese.

PMID:
21811977
17.

Phenylketonuria mutations in Northern China.

Song F, Qu YJ, Zhang T, Jin YW, Wang H, Zheng XY.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S107-18. Epub 2005 Oct 26.

PMID:
16256386
18.

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.

19.

[Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang].

Yu WZ, Qiu DH, Song F, Liu L, Liu SM, He XJ, Jin YW, Zhang YL, Zou HY, He J, Lei Q, Liu XW.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):26-30. doi: 10.3760/cma.j.issn.1003-9406.2009.01.006. Chinese.

PMID:
19199246
20.

[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].

Song L, Dang L, Meng Y, Fu B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):7-12. doi: 10.3760/cma.j.issn.1003-9406.2010.01.002. Chinese.

PMID:
20140859

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