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152 related items for PubMed ID: 31703126

  • 21. 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; 49(11):10409-10419. PubMed ID: 36104584
    [Abstract] [Full Text] [Related]

  • 22. [Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].
    He J, Wang HZ, Xu FL, Yang X, Wang R, Zou HY, Yu WZ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Nov; 17(11):1221-7. PubMed ID: 26575882
    [Abstract] [Full Text] [Related]

  • 23. Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.
    Qiu X, Zhao P, Luo J, Li G, Deng L, Zeng Y, Xu L, Zhou J.
    Front Genet; 2023 Nov; 14():1250568. PubMed ID: 37636258
    [Abstract] [Full Text] [Related]

  • 24. Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.
    Fernández-Lainez C, Ibarra-González I, Alcántara-Ortigoza MÁ, Fernández-Hernández L, Enríquez-Flores S, González-Del Ángel A, Blau N, Thöny B, Guillén-López S, Belmont-Martínez L, Ruiz-García M, Vela-Amieva M.
    Brain Dev; 2018 Aug; 40(7):530-536. PubMed ID: 29685341
    [Abstract] [Full Text] [Related]

  • 25. [Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].
    Mao XM, He J, Liu Y, Li XQ, Yu WZ, Gao ZH, Cai J.
    Zhongguo Dang Dai Er Ke Za Zhi; 2014 Mar; 16(3):259-62. PubMed ID: 24661517
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.
    Xie K, Zeng B, Zhang L, Chen S, Zou Y, Yuan H, Huang S, Wang F, Lu Q, Liu Y, Yang B.
    Front Genet; 2022 Oct 05; 13():1077729. PubMed ID: 36583021
    [Abstract] [Full Text] [Related]

  • 28. [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 05; 46(2):115-9. PubMed ID: 19099685
    [Abstract] [Full Text] [Related]

  • 29. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
    Li N, Jia H, Liu Z, Tao J, Chen S, Li X, Deng Y, Jin X, Song J, Zhang L, Liang Y, Wang W, Zhu J.
    Sci Rep; 2015 Oct 27; 5():15769. PubMed ID: 26503515
    [Abstract] [Full Text] [Related]

  • 30. Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
    Chaiyasap P, Ittiwut C, Srichomthong C, Sangsin A, Suphapeetiporn K, Shotelersuk V.
    BMC Med Genet; 2017 Sep 16; 18(1):102. PubMed ID: 28915855
    [Abstract] [Full Text] [Related]

  • 31. Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
    Liu TT, Hsiao KJ, Lu SF, Wu SJ, Wu KF, Chiang SH, Liu XQ, Chen RG, Yu WM.
    Hum Mutat; 1998 Sep 16; 11(1):76-83. PubMed ID: 9450907
    [Abstract] [Full Text] [Related]

  • 32. 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 16; 34(2):89-94. PubMed ID: 29413232
    [Abstract] [Full Text] [Related]

  • 33. [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 16; 29(6):635-41. PubMed ID: 23225039
    [Abstract] [Full Text] [Related]

  • 34. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
    Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X.
    Chin Med J (Engl); 2002 Feb 16; 115(2):217-21. PubMed ID: 11940335
    [Abstract] [Full Text] [Related]

  • 35. Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
    Li N, He C, Li J, Tao J, Liu Z, Zhang C, Yuan Y, Jiang H, Zhu J, Deng Y, Guo Y, Li Q, Yu P, Wang Y.
    Sci Rep; 2018 Jul 26; 8(1):11251. PubMed ID: 30050108
    [Abstract] [Full Text] [Related]

  • 36. 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 26; 523():267-272. PubMed ID: 34653385
    [Abstract] [Full Text] [Related]

  • 37. Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.
    Li N, Yu P, Rao B, Deng Y, Guo Y, Huang Y, Ding L, Zhu J, Yang H, Wang J, Guo J, Chen F, Liu Z.
    J Pediatr Endocrinol Metab; 2018 Aug 28; 31(8):911-916. PubMed ID: 30001213
    [Abstract] [Full Text] [Related]

  • 38. 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 28; 481():132-138. PubMed ID: 29499199
    [Abstract] [Full Text] [Related]

  • 39. 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 28; 174(10):1333-8. PubMed ID: 25894915
    [Abstract] [Full Text] [Related]

  • 40. [Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].
    Mao X, He J, Liu Y, Li X, Yu W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb 28; 31(1):6-10. PubMed ID: 24510552
    [Abstract] [Full Text] [Related]

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