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Journal Abstract Search

226 related items for PubMed ID: 36104584

  • 41. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
    Kasnauskiene J, Cimbalistiene L, Kucinskas V.
    Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
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  • 43. Variations in genotype-phenotype correlations in phenylketonuria patients.
    Santos LL, Fonseca CG, Starling AL, Januário JN, Aguiar MJ, Peixoto MG, Carvalho MR.
    Genet Mol Res; 2010 Jan 05; 9(1):1-8. PubMed ID: 20082265
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  • 49. 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 Jan 05; 53(5):407-418. PubMed ID: 18299955
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  • 50. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
    Daniele A, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G, Salvatore F.
    FEBS J; 2009 Apr 05; 276(7):2048-59. PubMed ID: 19292873
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  • 51. Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes.
    Khaghani F, Eshraghi P, Hamzehloei T.
    Eur J Med Genet; 2022 Sep 05; 65(9):104536. PubMed ID: 35690318
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  • 52. 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 05; 117(3):328-35. PubMed ID: 26803807
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  • 54. Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
    Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Milà M.
    Hum Genet; 1999 Nov 05; 105(5):468-73. PubMed ID: 10598814
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  • 56. [Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].
    Lu Q, Liu Y, Yang B, Xie K, Zou Y, Lu W, Wang F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov 10; 36(11):1057-1061. PubMed ID: 31703125
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  • 59. [Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].
    Zhu W, Chen H, Su Y, Zhao H, Wang J, Zhou J, Chen Y, Zen Y, Lin F, Zhang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr 10; 32(2):158-62. PubMed ID: 25863076
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  • 60. Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
    Himmelreich N, Ramón-Maiques S, Navarrete R, Castejon-Fernandez N, Garbade SF, Martinez A, Desviat LR, Pérez B, Blau N.
    Mol Genet Metab; 2024 Jul 10; 142(3):108514. PubMed ID: 38905920
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