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PUBMED FOR HANDHELDS

Journal Abstract Search


152 related items for PubMed ID: 35405047

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  • 23. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
    Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N.
    Mol Genet Metab; 2011 Feb; 102(2):116-21. PubMed ID: 21147011
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  • 24. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
    Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Correra A, Pignero A, Castaldo G, Salvatore F.
    Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
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  • 25. IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.
    Costa RD, Galera BB, Rezende BC, Venâncio AC, Galera MF.
    Rev Paul Pediatr; 2020 Mar; 38():e2018351. PubMed ID: 32074228
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  • 28. PREVALENCE OF PAH MUTATIONS IN GEORGIAN PKU PATIENTS COMPARED TO MOST FREQUENT PAH MUTATIONS IN EUROPEAN POPULATIONS.
    Agladze D, Iordanishvili S, Margvelashvili L, Kldiashvili E, Kvlividze O.
    Georgian Med News; 2020 Nov; (308):143-149. PubMed ID: 33395657
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  • 30. Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
    Bonfim-Freitas PE, Andrade RS, Ribeiro-Dos-Santos ÂK, Silva LCS.
    Mol Genet Genomic Med; 2023 Oct; 11(10):e2224. PubMed ID: 37421234
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  • 38. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F, Guldberg P.
    Acta Paediatr Suppl; 1994 Dec; 407():49-56. PubMed ID: 7766959
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  • 39. Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
    Balobaid A, Imtiaz F, Ramzan K, Afzal S, AlSayed M.
    Genet Test Mol Biomarkers; 2023 May; 27(5):142-148. PubMed ID: 37257178
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  • 40. Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?
    Wiedemann A, Leheup B, Battaglia-Hsu SF, Jonveaux P, Jeannesson E, Feillet F.
    Mol Genet Metab; 2013 May; 110 Suppl():S62-5. PubMed ID: 24051226
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