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Journal Abstract Search

144 related items for PubMed ID: 37257178

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  • 3. Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
    Rajabi F, Rohr F, Wessel A, Martell L, Dobrowolski SF, Guldberg P, Güttler F, Levy HL.
    Mol Genet Metab; 2019 Dec; 128(4):415-421. PubMed ID: 31623983
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  • 6. 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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  • 12. 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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  • 14. [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 23; 29(6):635-41. PubMed ID: 23225039
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  • 15. 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 23; 174(10):1333-8. PubMed ID: 25894915
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  • 16. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
    Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E.
    Hum Mol Genet; 1993 Oct 23; 2(10):1703-7. PubMed ID: 8268925
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  • 18. 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 23; 34(2):89-94. PubMed ID: 29413232
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  • 20. Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
    Ledley FD, Levy HL, Woo SL.
    N Engl J Med; 1986 May 15; 314(20):1276-80. PubMed ID: 3702929
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