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129 related items for PubMed ID: 34653385

  • 1. A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population.
    Shao B, Liu A, Zhang J, Wang Y, Qiao F, Zhang C, Zhu Y, Lin Y, Hu P, Tao T, Jiang Z, Tan J, Xu Z.
    Clin Chim Acta; 2021 Dec; 523():267-272. PubMed ID: 34653385
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with Phenylketonuria.
    Namdar Aligoodarzi P, Rostami G, Kazemi Nezhad SR, Hamid M.
    Iran Biomed J; 2023 Jan 01; 27(1):46-57. PubMed ID: 36624928
    [Abstract] [Full Text] [Related]

  • 4. Mutational spectrum of phenylketonuria in Jiangsu province.
    Chen YF, Jia HT, Chen ZH, Song JP, Liang Y, Pei JJ, Wu ZJ, Wang J, Qiu YL, Liu G, Sun DM, Jiang XY.
    Eur J Pediatr; 2015 Oct 01; 174(10):1333-8. PubMed ID: 25894915
    [Abstract] [Full Text] [Related]

  • 5. The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
    Zhang C, Zhang P, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X.
    Hum Genomics; 2023 Apr 25; 17(1):36. PubMed ID: 37098607
    [Abstract] [Full Text] [Related]

  • 6. 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 25; 34(2):89-94. PubMed ID: 29413232
    [Abstract] [Full Text] [Related]

  • 7. Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
    Zhou J, Zeng Y, Qiu X, Lin Q, Chen W, Luo J, Xu L.
    Mol Biol Rep; 2022 Nov 25; 49(11):10409-10419. PubMed ID: 36104584
    [Abstract] [Full Text] [Related]

  • 8. Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
    Yan Y, Zhang C, Jin X, Zhang Q, Zheng L, Feng X, Hao S, Gao H, Ma X.
    Metab Brain Dis; 2019 Jun 25; 34(3):733-745. PubMed ID: 30747360
    [Abstract] [Full Text] [Related]

  • 9. [Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
    Su R, Zhu L, Lin Y, Zhu J, Zheng F, Fu Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov 10; 36(11):1062-1066. PubMed ID: 31703126
    [Abstract] [Full Text] [Related]

  • 10. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
    Liu N, Huang Q, Li Q, Zhao D, Li X, Cui L, Bai Y, Feng Y, Kong X.
    BMC Med Genet; 2017 Oct 05; 18(1):108. PubMed ID: 28982351
    [Abstract] [Full Text] [Related]

  • 11. Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
    Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y.
    Clin Chim Acta; 2018 Jun 05; 481():132-138. PubMed ID: 29499199
    [Abstract] [Full Text] [Related]

  • 12. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F, Guldberg P.
    Acta Paediatr Suppl; 1994 Dec 05; 407():49-56. PubMed ID: 7766959
    [Abstract] [Full Text] [Related]

  • 13. An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey.
    Ozturk FN, Akin Duman T.
    J Pediatr Endocrinol Metab; 2022 May 25; 35(5):663-668. PubMed ID: 35405047
    [Abstract] [Full Text] [Related]

  • 14. [Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene].
    Yang P, Sun Y, Wang X, Ma D, Wang Y, Zhang Z, Jiang T.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar 10; 41(3):278-283. PubMed ID: 38448014
    [Abstract] [Full Text] [Related]

  • 15. 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.
    Mol Genet Metab; 2019 Dec 10; 128(4):415-421. PubMed ID: 31623983
    [Abstract] [Full Text] [Related]

  • 16. Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China.
    Zhao Z, Liu X, Huang C, Xu H, Fu C.
    Scand J Clin Lab Invest; 2020 Dec 10; 80(8):619-622. PubMed ID: 33161754
    [Abstract] [Full Text] [Related]

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  • 19. Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.
    Luo X, Wang R, Sun Y, Qiu W, Lu D, Wang Y, Gong Z, Zhang H, Han L, Liang L, Gu X, Yu Y, Xiao B.
    J Mol Diagn; 2023 May 10; 25(5):284-294. PubMed ID: 36849017
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 46(18):1896-8. PubMed ID: 23792259
    [Abstract] [Full Text] [Related]

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