237 related articles for article (PubMed ID: 21890392)
1. The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
Kostandyan N; Britschgi C; Matevosyan A; Oganezova A; Davtyan A; Blau N; Steinmann B; Thöny B
Mol Genet Metab; 2011; 104 Suppl():S93-6. PubMed ID: 21890392
[TBL] [Abstract][Full Text] [Related]
2. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y; Drummond-Borg M; Garcia-Heras J
Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716
[TBL] [Abstract][Full Text] [Related]
3. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A; Silva W; Carvalho T; Gomes M; Zago M
Hum Mutat; 2001 Feb; 17(2):122-30. PubMed ID: 11180595
[TBL] [Abstract][Full Text] [Related]
4. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
Zhang Z; Gao JJ; Feng Y; Zhu LL; Yan H; Shi XF; Chang AM; Shi Y; Wang P
Scand J Clin Lab Invest; 2018 May; 78(3):211-218. PubMed ID: 29390883
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
Alibakhshi R; Moradi K; Mohebbi Z; Ghadiri K
Metab Brain Dis; 2014 Mar; 29(1):131-8. PubMed ID: 24048906
[TBL] [Abstract][Full Text] [Related]
6. [Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
Qiang R; Yu W; Cai N; Wang X; Qin C; Zhang L; Ma X; Wang L; Shi X; Liu H; Li X; Wang X; He J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):74-7. PubMed ID: 24510568
[TBL] [Abstract][Full Text] [Related]
7. [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. PubMed ID: 19099685
[TBL] [Abstract][Full Text] [Related]
8. [Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area].
Smagulova FO; Maslennikov AB; Morozov IV; Kitaĭnik GP
Genetika; 2000 Jun; 36(6):849-52. PubMed ID: 10923269
[TBL] [Abstract][Full Text] [Related]
9. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
Song F; Jin YW; Wang H; Yang YL; Zhang YM; Zhang T
Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
[TBL] [Abstract][Full Text] [Related]
10. 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
Mol Genet Metab; 2012 Aug; 106(4):403-11. PubMed ID: 22698810
[TBL] [Abstract][Full Text] [Related]
11. 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
J Hum Genet; 2009 Jun; 54(6):335-9. PubMed ID: 19444284
[TBL] [Abstract][Full Text] [Related]
12. 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
Mol Genet Metab; 2011 Feb; 102(2):116-21. PubMed ID: 21147011
[TBL] [Abstract][Full Text] [Related]
13. 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
Mol Genet Metab; 2012 Jun; 106(2):142-8. PubMed ID: 22513348
[TBL] [Abstract][Full Text] [Related]
14. PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
Wang ZW; Jiang SW; Zhou BC
Kaohsiung J Med Sci; 2018 Feb; 34(2):89-94. PubMed ID: 29413232
[TBL] [Abstract][Full Text] [Related]
15. A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.
Gemperle-Britschgi C; Iorgulescu D; Mager MA; Anton-Paduraru D; Vulturar R; Thöny B
Gene; 2016 Jan; 576(1 Pt 1):182-8. PubMed ID: 26481238
[TBL] [Abstract][Full Text] [Related]
16. PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR; Hurtubise M; Konecki D; Phommarinh M; Prevost L; Erlandsen H; Stevens R; Waters PJ; Ryan S; McDonald D; Sarkissian C
Hum Mutat; 2003 Apr; 21(4):333-44. PubMed ID: 12655543
[TBL] [Abstract][Full Text] [Related]
17. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Acosta AX; Silva WA; Carvalho TM; Zago MA
Hum Mutat; 2001; 17(1):77. PubMed ID: 11139255
[TBL] [Abstract][Full Text] [Related]
18. [Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria].
Song F; Jin YW; Wang H; Zhang YM; Yang YL; Zhang T
Yi Chuan; 2005 Jan; 27(1):53-6. PubMed ID: 15730960
[TBL] [Abstract][Full Text] [Related]
19. [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. PubMed ID: 23225039
[TBL] [Abstract][Full Text] [Related]
20. Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Carter KC; Byck S; Waters PJ; Richards B; Nowacki PM; Laframboise R; Lambert M; Treacy E; Scriver CR
Eur J Hum Genet; 1998 Jan; 6(1):61-70. PubMed ID: 9781015
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]