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Journal Abstract Search

369 related items for PubMed ID: 29499199

  • 21.
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  • 22. Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
    Rivera I, Mendes D, Afonso Â, Barroso M, Ramos R, Janeiro P, Oliveira A, Gaspar A, Tavares de Almeida I.
    Mol Genet Metab; 2011; 104 Suppl():S86-92. PubMed ID: 21871829
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  • 26. Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
    Gu Y, Lu K, Yang G, Cen Z, Yu L, Lin L, Hao J, Yang Z, Peng J, Cui S, Huang J.
    PLoS One; 2014; 9(4):e94100. PubMed ID: 24705691
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  • 27. Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
    Liu TT, Chang YH, Chiang SH, Yang YL, Yu WM, Hsiao KJ.
    Hum Mutat; 2001; 18(1):83. PubMed ID: 11438997
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  • 28. [Research progress on phenotype and genotype of hyperphenylalaninemia].
    Chen T, Zhao Z, Jiang P, Shu Q.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2018 May 25; 47(3):219-226. PubMed ID: 30226320
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  • 34. [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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  • 37. Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.
    Sadat Fatemi SH, Eshraghi P, Ghanei M, Hamzehloei T.
    Mol Genet Genomic Med; 2022 Dec 25; 10(12):e2081. PubMed ID: 36382472
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  • 39. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
    Aldámiz-Echevarría L, Llarena M, Bueno MA, Dalmau J, Vitoria I, Fernández-Marmiesse A, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, Peña-Quintana L, González D, Sánchez-Valverde F, Desviat LR, Pérez B, Couce ML.
    J Hum Genet; 2016 Aug 25; 61(8):731-44. PubMed ID: 27121329
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  • 40. Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia.
    Wang L, Ma D, Sun Y, Wang Y, Zeng H, Liu G, Zhang J, Xu Z.
    Gene; 2023 Jun 15; 869():147397. PubMed ID: 36990253
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