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Journal Abstract Search

278 related items for PubMed ID: 34828281

  • 1. 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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  • 3. 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 23; 78(3):211-218. PubMed ID: 29390883
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  • 5. Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
    Vela-Amieva M, Abreu-González M, González-del Angel A, Ibarra-González I, Fernández-Lainez C, Barrientos-Ríos R, Monroy-Santoyo S, Guillén-López S, Alcántara-Ortigoza MA.
    Clin Genet; 2015 Jul 23; 88(1):62-7. PubMed ID: 24941924
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  • 7. Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
    Klaassen K, Djordjevic M, Skakic A, Desviat LR, Pavlovic S, Perez B, Stojiljkovic M.
    Biochem Genet; 2018 Oct 23; 56(5):533-541. PubMed ID: 29654578
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  • 11. 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 Oct 23; 53(5):407-418. PubMed ID: 18299955
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  • 12. 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 23; 46(18):1896-8. PubMed ID: 23792259
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  • 17. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
    Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL.
    Mol Genet Metab; 2007 Jul 23; 91(3):218-27. PubMed ID: 17502162
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  • 18. In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
    Trunzo R, Santacroce R, Shen N, Jung-Klawitter S, Leccese A, De Girolamo G, Margaglione M, Blau N.
    Gene; 2016 Dec 05; 594(1):138-143. PubMed ID: 27620137
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  • 20. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.
    Çınar M, Kılıç Yıldırım G, Kocagil S, Çilingir O.
    J Pediatr Endocrinol Metab; 2022 May 25; 35(5):639-647. PubMed ID: 35355500
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