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Journal Abstract Search

225 related items for PubMed ID: 32654453

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  • 4. 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; 174(10):1333-8. PubMed ID: 25894915
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  • 7. [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].
    Qu YJ, Song F, Jin YW, Wang H, Zhang YM, Qin JL, Qiu L.
    Zhonghua Er Ke Za Zhi; 2008 Feb; 46(2):115-9. PubMed ID: 19099685
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  • 8. Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review.
    Liu Y, Dong Z, Yu S.
    Clin Neurol Neurosurg; 2018 Aug; 171():151-155. PubMed ID: 29909188
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  • 9. Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.
    Yu X, Liu F, Wei B, Li M, Lu R, Pan L.
    Discov Med; 2023 Aug; 35(177):533-538. PubMed ID: 37553307
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  • 11. DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.
    Item CB, Farhadi S, Schanzer A, Greber-Platzer S.
    Clin Biochem; 2017 Aug; 50(12):729-732. PubMed ID: 28389235
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  • 12. 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; 34(2):89-94. PubMed ID: 29413232
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  • 13. Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
    Lilleväli H, Ounap K, Metspalu A.
    Eur J Hum Genet; 1996 Feb; 4(5):296-300. PubMed ID: 8946176
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  • 14. Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.
    Wang X, He Y, Jiang Y, Feng X, Zhang G, Xia Z, Zhou Y.
    Clin Chim Acta; 2019 Nov; 498():161-166. PubMed ID: 31445982
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  • 15. [Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].
    Lu CX, Gao X, Wang JW, Zhang M, Zhu HW, Sun J, Xiao JF, Yang W, Zhao XL, Qi Z, Zhang X.
    Zhonghua Yi Xue Za Zhi; 2011 Nov 15; 91(42):2971-6. PubMed ID: 22333022
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  • 19. 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 15; 91(3):218-27. PubMed ID: 17502162
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