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Journal Abstract Search

112 related items for PubMed ID: 38818554

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  • 7. 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; 34(3):733-745. PubMed ID: 30747360
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  • 9. 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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  • 16. [Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].
    He J, Wang HZ, Xu FL, Yang X, Wang R, Zou HY, Yu WZ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Nov 10; 17(11):1221-7. PubMed ID: 26575882
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  • 18. The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
    Zhang C, Zhang P, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X.
    Hum Genomics; 2023 Apr 25; 17(1):36. PubMed ID: 37098607
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  • 19. Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.
    Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS.
    J Cell Biochem; 2014 Mar 25; 115(3):566-74. PubMed ID: 24130151
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  • 20. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.
    Daiger SP, Lidsky AS, Chakraborty R, Koch R, Güttler F, Woo SL.
    Lancet; 1986 Feb 01; 1(8475):229-32. PubMed ID: 2868252
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