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Journal Abstract Search

221 related items for PubMed ID: 12409276

  • 1. Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.
    Bardelli T, Donati MA, Gasperini S, Ciani F, Belli F, Blau N, Morrone A, Zammarchi E.
    Mol Genet Metab; 2002 Nov; 77(3):260-6. PubMed ID: 12409276
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  • 4. Mutation analysis in hyperphenylalaninemia patients from South Italy.
    Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M.
    Clin Biochem; 2013 Dec; 46(18):1896-8. PubMed ID: 23792259
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  • 6. 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 Dec; 104 Suppl():S86-92. PubMed ID: 21871829
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  • 11. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.
    Spaapen LJ, Rubio-Gozalbo ME.
    Mol Genet Metab; 2003 Feb; 78(2):93-9. PubMed ID: 12618080
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  • 14. Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
    Desviat LR, Pérez B, Bèlanger-Quintana A, Castro M, Aguado C, Sánchez A, García MJ, Martínez-Pardo M, Ugarte M.
    Mol Genet Metab; 2004 Feb; 83(1-2):157-62. PubMed ID: 15464430
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  • 18. An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
    Vela-Amieva M, Alcántara-Ortigoza MA, Ibarra-González I, González-Del Angel A, Fernández-Hernández L, Guillén-López S, López-Mejía L, Carrillo-Nieto RI, Belmont-Martínez L, Fernández-Lainez C.
    Genes (Basel); 2021 Oct 23; 12(11):. PubMed ID: 34828281
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  • 20. Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients.
    Zekanowski C, Jurkowska M, Bal J.
    Hum Hered; 2001 Oct 23; 51(1-2):117-20. PubMed ID: 11096279
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