Works matching DE "PHENYLKETONURIA diagnosis"

Results: 98
    1

    International Survey on Phenylketonuria Newborn Screening.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018
    By:
    • Trampuž, Domen;
    • Schielen, Peter C. J. I.;
    • Zetterström, Rolf H.;
    • Scarpa, Maurizio;
    • Feillet, François;
    • Kožich, Viktor;
    • Tangeraas, Trine;
    • Drole Torkar, Ana;
    • Mlinarič, Matej;
    • Perko, Daša;
    • Remec, Žiga Iztok;
    • Lampret, Barbka Repič;
    • Battelino, Tadej;
    • van Spronsen, Francjan J.;
    • Bonham, James R.;
    • Grošelj, Urh
    Publication type:
    Article
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    Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002
    By:
    • Cantley, Nathan W. P.;
    • Barski, Robert;
    • Kemp, Helena;
    • Hogg, Sarah L.;
    • Wu, Hoi Yee Teresa;
    • Bowron, Ann;
    • Collingwood, Catherine;
    • Cundick, Jennifer;
    • Hart, Claire;
    • Shakespeare, Lynette;
    • Preece, Mary Anne;
    • Aitkenhead, Helen;
    • Smith, Sarah;
    • Carling, Rachel S.;
    • Moat, Stuart J.
    Publication type:
    Article
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    Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.

    Published in:
    2016
    By:
    • Giżewska, Maria;
    • MacDonald, Anita;
    • Bélanger-Quintana, Amaya;
    • Burlina, Alberto;
    • Cleary, Maureen;
    • Coşkun, Turgay;
    • Feillet, François;
    • Muntau, Ania;
    • Trefz, Friedrich;
    • Spronsen, Francjan;
    • Blau, Nenad;
    • Giżewska, Maria;
    • Bélanger-Quintana, Amaya;
    • Coşkun, Turgay;
    • Feillet, François;
    • Muntau, Ania C;
    • Trefz, Friedrich K;
    • van Spronsen, Francjan J
    Publication type:
    journal article
    9

    Genotype–Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

    Published in:
    Nutrients, 2025, v. 17, n. 3, p. 379, doi. 10.3390/nu17030379
    By:
    • Consentino, Maria Chiara;
    • La Spina, Luisa;
    • Meli, Concetta;
    • Messina, Marianna;
    • Lo Bianco, Manuela;
    • Sapuppo, Annamaria;
    • Pappalardo, Maria Grazia;
    • Iacobacci, Riccardo;
    • Arena, Alessia;
    • Vecchio, Michele;
    • Ruggieri, Martino;
    • Polizzi, Agata;
    • Praticò, Andrea Domenico
    Publication type:
    Article
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    FENILCETONÚRIA: UMA REVISÃO DE LITERATURA.

    Published in:
    Electronic Journal of Pharmacy / Revista Eletrônica de Farmácia, 2014, v. 11, n. 4, p. 27, doi. 10.5216/ref.v11i4.31258
    By:
    • Porto Ascenso Rosa, Ruy Roberto
    Publication type:
    Article
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    Guide for diagnosis and treatment of hyperphenylalaninemia.

    Published in:
    Pediatrics International, 2021, v. 63, n. 1, p. 8, doi. 10.1111/ped.14399
    By:
    • Shintaku, Haruo;
    • Ohura, Toshihiro;
    • Takayanagi, Masaki;
    • Kure, Shigeo;
    • Owada, Misao;
    • Matsubara, Yoichi;
    • Yoshino, Makoto;
    • Okano, Yoshiyuki;
    • Ito, Tetsuya;
    • Okuyama, Torayuki;
    • Nakamura, Kimitoshi;
    • Matuo, Masafumi;
    • Endo, Fumio;
    • Ida, Hiroyuki
    Publication type:
    Article
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    TOWARD A WIDER VIEW.

    Published in:
    British Journal of Occupational Therapy, 1980, v. 43, n. 10, p. 343, doi. 10.1177/030802268004301011
    By:
    • Agag
    Publication type:
    Article