Works matching IS 17501172 AND DT 2020 AND VI 15

Results: 353
    1

    RarERN Path: a methodology towards the optimisation of patients' care pathways in rare and complex diseases developed within the European Reference Networks.

    Published in:
    2020
    By:
    • Rosaria, Talarico;
    • Sara, Cannizzo;
    • Valentina, Lorenzoni;
    • Diana, Marinello;
    • Ilaria, Palla;
    • Salvatore, Pirri;
    • Simone, Ticciati;
    • Leopoldo, Trieste;
    • Isotta, Triulzi;
    • Enrique, Terol;
    • Anna, Bucher;
    • Giuseppe, Turchetti;
    • Talarico, Rosaria;
    • Cannizzo, Sara;
    • Lorenzoni, Valentina;
    • Marinello, Diana;
    • Palla, Ilaria;
    • Pirri, Salvatore;
    • Ticciati, Simone;
    • Trieste, Leopoldo
    Publication type:
    journal article
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    French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides).

    Published in:
    2020
    By:
    • Terrier, Benjamin;
    • Darbon, Raphaël;
    • Durel, Cécile-Audrey;
    • Hachulla, Eric;
    • Karras, Alexandre;
    • Maillard, Hélène;
    • Papo, Thomas;
    • Puechal, Xavier;
    • Pugnet, Grégory;
    • Quemeneur, Thomas;
    • Samson, Maxime;
    • Taille, Camille;
    • Guillevin, Loïc;
    • Audard, Vincent;
    • Aumaitre, Olivier;
    • Briot, Karine;
    • Cacoub, Patrice;
    • Cathebras, Pascal;
    • Chauveau, Dominique;
    • Chosidow, Olivier
    Publication type:
    journal article
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    Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

    Published in:
    2020
    By:
    • Scalco, Renata S.;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Martinuzzi, Andrea;
    • Vavla, Marinela;
    • Reni, Gianluigi;
    • Toscano, Antonio;
    • Musumeci, Olimpia;
    • Voermans, Nicol C.;
    • Kouwenberg, Carlyn V.;
    • Laforêt, Pascal;
    • San-Millán, Beatriz;
    • Vieitez, Irene;
    • Siciliano, Gabriele;
    • Kühnle, Enrico;
    • Trost, Rebeca;
    • Sacconi, Sabrina;
    • Stemmerik, Mads G.;
    • Durmus, Hacer;
    • Kierdaszuk, Biruta
    Publication type:
    journal article
    23

    Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

    Published in:
    2020
    By:
    • Mengel, Eugen;
    • Bembi, Bruno;
    • del Toro, Mireia;
    • Deodato, Federica;
    • Gautschi, Matthias;
    • Grunewald, Stephanie;
    • Grønborg, Sabine;
    • Héron, Bénédicte;
    • Maier, Esther M.;
    • Roubertie, Agathe;
    • Santra, Saikat;
    • Tylki-Szymanska, Anna;
    • Day, Simon;
    • Symonds, Tara;
    • Hudgens, Stacie;
    • Patterson, Marc C.;
    • Guldberg, Christina;
    • Ingemann, Linda;
    • Petersen, Nikolaj H. T.;
    • Kirkegaard, Thomas
    Publication type:
    journal article
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    Gut microbiome signature of Viliuisk encephalomyelitis in Yakuts includes an increase in microbes linked to lean body mass and eating behaviour.

    Published in:
    2020
    By:
    • Kuznetsova, Veronika;
    • Tyakht, Alexander;
    • Akhmadishina, Lyudmila;
    • Odintsova, Vera;
    • Klimenko, Natalia;
    • Kostryukova, Elena;
    • Vakhitova, Maria;
    • Grigoryeva, Tatyana;
    • Malanin, Sergey;
    • Vladimirtsev, Vsevolod;
    • Nikitina, Raisa;
    • Volok, Viktor;
    • Osakovskiy, Vladimir;
    • Sivtseva, Tatiana;
    • Platonov, Fyodor;
    • Alexeev, Dmitry;
    • Karganova, Galina
    Publication type:
    journal article
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    Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.

    Published in:
    2020
    By:
    • Margutti, Ana Vitoria Barban;
    • Silva, Wilson Araújo;
    • Garcia, Daniel Fantozzi;
    • de Molfetta, Greice Andreotti;
    • Marques, Adriana Aparecida;
    • Amorim, Tatiana;
    • Prazeres, Vânia Mesquita Gadelha;
    • Boy da Silva, Raquel Tavares;
    • Miura, Irene Kazue;
    • Seda Neto, João;
    • Santos, Emerson de Santana;
    • Santos, Mara Lúcia Schmitz Ferreira;
    • Lourenço, Charles Marques;
    • Tonon, Tássia;
    • Sperb-Ludwig, Fernanda;
    • de Souza, Carolina Fischinger Moura;
    • Schwartz, Ida Vanessa Döederlein;
    • Camelo, José Simon;
    • Silva, Wilson Araújo Jr;
    • Camelo, José Simon Jr
    Publication type:
    journal article
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