Works in Orphanet Journal of Rare Diseases, 2021, Vol 16, Issue 1

Results: 543
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    Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.

    Published in:
    2021
    By:
    • Vandevelde, Nathalie M.;
    • Vermeersch, Pieter;
    • Devreese, Katrien M. J.;
    • Vincent, Marie-Françoise;
    • Gulbis, Béatrice;
    • Eyskens, François;
    • Boemer, François;
    • Gothot, André;
    • Van Hoof, Viviane O.;
    • Bonroy, Carolien;
    • Stepman, Hedwig;
    • Martens, Geert A.;
    • Bossuyt, Xavier;
    • Roosens, Laurence;
    • Smet, Julie;
    • Laeremans, Hilde;
    • Weets, Ilse;
    • Minon, Jean-Marc;
    • Vernelen, Kris;
    • Coucke, Wim
    Publication type:
    journal article
    2

    Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy).

    Published in:
    2021
    By:
    • Coi, Alessio;
    • Barsotti, Simone;
    • Santoro, Michele;
    • Almerigogna, Fabio;
    • Bargagli, Elena;
    • Caproni, Marzia;
    • Emmi, Giacomo;
    • Frediani, Bruno;
    • Guiducci, Serena;
    • Matucci Cerinic, Marco;
    • Mosca, Marta;
    • Parronchi, Paola;
    • Prediletto, Renato;
    • Selvi, Enrico;
    • Simonini, Gabriele;
    • Tavoni, Antonio Gaetano;
    • Bianchi, Fabrizio;
    • Pierini, Anna;
    • Rare Diseases Working Group
    Publication type:
    journal article
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    Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study.

    Published in:
    2021
    By:
    • Lumry, William R.;
    • Zuraw, Bruce;
    • Cicardi, Marco;
    • Craig, Timothy;
    • Anderson, John;
    • Banerji, Aleena;
    • Bernstein, Jonathan A.;
    • Caballero, Teresa;
    • Farkas, Henriette;
    • Gower, Richard G.;
    • Keith, Paul K.;
    • Levy, Donald S.;
    • Li, H. Henry;
    • Magerl, Markus;
    • Manning, Michael;
    • Riedl, Marc A.;
    • Lawo, John-Philip;
    • Prusty, Subhransu;
    • Machnig, Thomas;
    • Longhurst, Hilary
    Publication type:
    journal article
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    One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.

    Published in:
    2021
    By:
    • Meyer, Robert;
    • Begemann, Matthias;
    • Hübner, Christian Thomas;
    • Dey, Daniela;
    • Kuechler, Alma;
    • Elgizouli, Magdeldin;
    • Schara, Ulrike;
    • Ambrozaityte, Laima;
    • Burnyte, Birute;
    • Schröder, Carmen;
    • Kenawy, Asmaa;
    • Kroisel, Peter;
    • Demuth, Stephanie;
    • Fekete, Gyorgy;
    • Opladen, Thomas;
    • Elbracht, Miriam;
    • Eggermann, Thomas
    Publication type:
    journal article
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