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Journal Abstract Search

304 related items for PubMed ID: 31102715

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  • 2. Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
    Shen N, Heintz C, Thiel C, Okun JG, Hoffmann GF, Blau N.
    Mol Genet Metab; 2016 Mar; 117(3):328-35. PubMed ID: 26803807
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  • 4. Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
    Himmelreich N, Shen N, Okun JG, Thiel C, Hoffmann GF, Blau N.
    Mol Genet Metab; 2018 Sep; 125(1-2):86-95. PubMed ID: 30037505
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  • 5. 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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  • 6. 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 05; 174(10):1333-8. PubMed ID: 25894915
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  • 13. 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 05; 56(5):533-541. PubMed ID: 29654578
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  • 15. Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.
    Alavanda C, Ceylan Eİ, Kılavuz S, Çıkı K.
    J Pediatr Endocrinol Metab; 2024 Jun 25; 37(6):543-552. PubMed ID: 38706300
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  • 17. 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
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  • 18. In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
    Zekanowsk C, Perez B, Desviat LR, Wiszniewski W, Ugarte M.
    Acta Biochim Pol; 2000 Jun 25; 47(2):365-9. PubMed ID: 11051201
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  • 19. The Genetic Landscape and Epidemiology of Phenylketonuria.
    Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N.
    Am J Hum Genet; 2020 Aug 06; 107(2):234-250. PubMed ID: 32668217
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  • 20. Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.
    Pecimonova M, Kluckova D, Csicsay F, Reblova K, Krahulec J, Procházkova D, Skultety L, Kadasi L, Soltysova A.
    Genes (Basel); 2019 Jun 15; 10(6):. PubMed ID: 31208052
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