Search Results - Alberto Ponzone

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  1. 1
    High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

    High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening* by Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tükel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J. Desnick

    Published 2006
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    A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

    A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype by Per Guldberg, Françoise Rey, Johannes Zschocke, Valentino Romano, Baudouin François, L. Michiels, Kurt Ullrich, Georg F. Hoffmann, Peter Burgard, Hildgund Schmidt, Concetta Meli, Enrica Riva, Irma Dianzani, Alberto Ponzone, Jean Rey, Flemming Güttler

    Published 1998
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    Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

    Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers by Luca Dello Strologo, Elon Pras, C. Pontesilli, Ercole Beccia, Vittorino Ricci-Barbini, Luisa De Sanctis, Alberto Ponzone, Michele Gallucci, Luigi Bisceglia, Leopoldo Zelante, Maite Jiménez-Vidal, Mariona Font, António Zorzano, F. Rousaud, Virginia Nunes, Paolo Gasparini, Manuel PalaciCombining Acute Accentn, Gianfranco Rizzoni

    Published 2002
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