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Journal Abstract Search

226 related items for PubMed ID: 36104584

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  • 2. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.
    Tao Y, Han D, Shen H, Li X.
    Brain Dev; 2021 Feb; 43(2):220-229. PubMed ID: 32893076
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  • 3. 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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  • 5. Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
    Chen T, Xu W, Wu D, Han J, Zhu L, Tong F, Yang R, Zhao Z, Jiang P, Shu Q.
    Sci Rep; 2018 Nov 20; 8(1):17137. PubMed ID: 30459323
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  • 6. 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 20; 34(3):733-745. PubMed ID: 30747360
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  • 8. Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China.
    Zhao Z, Liu X, Huang C, Xu H, Fu C.
    Scand J Clin Lab Invest; 2020 Dec 20; 80(8):619-622. PubMed ID: 33161754
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  • 9. Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
    Zhu T, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X.
    Gene; 2013 Oct 15; 529(1):80-7. PubMed ID: 23932990
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  • 11. Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.
    Wang J, Zhu B, Zhang L, Zhao Y, Wang X, Jia Y.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug 25; 50(4):444-453. PubMed ID: 34704413
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  • 13. Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
    Polak E, Ficek A, Radvanszky J, Soltysova A, Urge O, Cmelova E, Kantarska D, Kadasi L.
    Gene; 2013 Sep 10; 526(2):347-55. PubMed ID: 23764561
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  • 15. Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.
    Wang X, Wang Y, Ma D, Zhang Z, Li Y, Yang P, Sun Y, Jiang T.
    Orphanet J Rare Dis; 2021 May 12; 16(1):214. PubMed ID: 33980295
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  • 16. 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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