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226 related items for PubMed ID: 36104584

  • 21. 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
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  • 22. [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
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  • 23. 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 10; 34(2):89-94. PubMed ID: 29413232
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  • 26. Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening.
    Sun M, Li Y, Li P, Li G, Yan Y, Zou H.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2023 Dec 07; 52(6):701-706. PubMed ID: 38105703
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  • 27. [Screening of phenylketonuria and analysis of phenylalanine hydroxylase gene in 380 996 newborns from Hainan province].
    Zhao ZD, Huang CD, Xu HZ, Fu CH.
    Zhonghua Yi Xue Za Zhi; 2020 Jul 14; 100(26):2054-2058. PubMed ID: 32654453
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  • 28. Allelic phenotype prediction of phenylketonuria based on the machine learning method.
    Fang Y, Gao J, Guo Y, Li X, Yuan E, Yuan E, Song L, Shi Q, Yu H, Zhao D, Zhang L.
    Hum Genomics; 2023 Mar 31; 17(1):34. PubMed ID: 37004080
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  • 29. 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 31; 523():267-272. PubMed ID: 34653385
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  • 37. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F, Guldberg P.
    Acta Paediatr Suppl; 1994 Dec 31; 407():49-56. PubMed ID: 7766959
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  • 38. An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
    Vela-Amieva M, Alcántara-Ortigoza MA, Ibarra-González I, González-Del Angel A, Fernández-Hernández L, Guillén-López S, López-Mejía L, Carrillo-Nieto RI, Belmont-Martínez L, Fernández-Lainez C.
    Genes (Basel); 2021 Oct 23; 12(11):. PubMed ID: 34828281
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  • 39. Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
    Balobaid A, Imtiaz F, Ramzan K, Afzal S, AlSayed M.
    Genet Test Mol Biomarkers; 2023 May 23; 27(5):142-148. PubMed ID: 37257178
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  • 40. In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
    Zhang X, Ye J, Shen N, Tao Y, Han L, Qiu W, Zhang H, Liang L, Fan Y, Wang J, Gong Z, Wang Y, You G, Fu Q, Mo X, Gu X, Yu Y.
    Gene; 2019 Jul 30; 707():239-245. PubMed ID: 31102715
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