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152 related items for PubMed ID: 35405047

  • 1. An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey.
    Ozturk FN, Akin Duman T.
    J Pediatr Endocrinol Metab; 2022 May 25; 35(5):663-668. PubMed ID: 35405047
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  • 2. 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 25; 78(3):211-218. PubMed ID: 29390883
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  • 3. A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients.
    Esfahani MS, Vallian S.
    Eur J Med Genet; 2019 Sep 25; 62(9):103559. PubMed ID: 30389586
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  • 4. Mutation spectrum of phenylketonuria in Iranian population.
    Zare-Karizi Sh, Hosseini-Mazinani SM, Khazaei-Koohpar Z, Seifati SM, Shahsavan-Behboodi B, Akbari MT, Koochmeshgi J.
    Mol Genet Metab; 2011 Jan 25; 102(1):29-32. PubMed ID: 20920871
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  • 6. Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.
    Effat LK, Essawi ML, Abd El Hamid MS, Hawari N, Gad YZ.
    Bratisl Lek Listy; 2008 Jan 25; 109(1):17-9. PubMed ID: 18447256
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  • 9. The molecular basis of phenylketonuria in Latvia.
    Pronina N, Giannattasio S, Lattanzio P, Lugovska R, Vevere P, Kornejeva A.
    Hum Mutat; 2003 Apr 25; 21(4):398-9. PubMed ID: 12655551
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  • 10. 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 25; 128(4):415-421. PubMed ID: 31623983
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  • 11. 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 25; 34(2):89-94. PubMed ID: 29413232
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  • 12. Frequencies of the most common mutations responsible for phenylketonuria in Poland.
    Zekanowski C, Nowacka M, Zgulska M, Horst J, Cabalska B, Mazurczak T.
    Mol Cell Probes; 1994 Aug 25; 8(4):323-4. PubMed ID: 7870074
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  • 13. Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
    Alibakhshi R, Moradi K, Mohebbi Z, Ghadiri K.
    Metab Brain Dis; 2014 Mar 25; 29(1):131-8. PubMed ID: 24048906
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  • 14. [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 25; 46(2):115-9. PubMed ID: 19099685
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  • 15. Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
    Alibakhshi R, Mohammadi A, Salari N, Khamooshian S, Kazeminia M, Moradi K.
    Metab Brain Dis; 2021 Jun 25; 36(5):767-780. PubMed ID: 33625639
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  • 17. 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 25; 174(10):1333-8. PubMed ID: 25894915
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