Works matching IS 17501172 AND DT 2021 AND VI 16 AND IP 1

Results: 543
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    Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy.

    Published in:
    2021
    By:
    • Suppressa, Patrizia;
    • Pagella, Fabio;
    • Lenato, Gennaro Mariano;
    • Gaetani, Eleonora;
    • Serio, Ilaria;
    • Masala, Maristella Salvatora;
    • Spinozzi, Giuseppe;
    • Lizzio, Roberta;
    • Matti, Elina;
    • De Silvestri, Annalisa;
    • Passali, Giulio Cesare;
    • Aguglia, Maria;
    • Crocione, Claudia;
    • Sabbà, Carlo
    Publication type:
    journal article
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    Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.

    Published in:
    2021
    By:
    • D'Erasmo, Laura;
    • Gallo, Antonio;
    • Cefalù, Angelo Baldassare;
    • Di Costanzo, Alessia;
    • Saheb, Samir;
    • Giammanco, Antonina;
    • Averna, Maurizio;
    • Buonaiuto, Alessio;
    • Iannuzzo, Gabriella;
    • Fortunato, Giuliana;
    • Puja, Arturo;
    • Montalcini, Tiziana;
    • Pavanello, Chiara;
    • Calabresi, Laura;
    • Vigna, Giovanni Battista;
    • Bucci, Marco;
    • Bonomo, Katia;
    • Nota, Fabio;
    • Sampietro, Tiziana;
    • Sbrana, Francesco
    Publication type:
    journal article
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    Growth patterns in children with spinal muscular atrophy.

    Published in:
    2021
    By:
    • De Amicis, Ramona;
    • Baranello, Giovanni;
    • Foppiani, Andrea;
    • Leone, Alessandro;
    • Battezzati, Alberto;
    • Bedogni, Giorgio;
    • Ravella, Simone;
    • Giaquinto, Ester;
    • Mastella, Chiara;
    • Agosto, Caterina;
    • Bertini, Enrico;
    • D'Amico, Adele;
    • Pedemonte, Marina;
    • Bruno, Claudio;
    • Wells, Jonathan C.;
    • Fewtrell, Mary;
    • Bertoli, Simona
    Publication type:
    journal article
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    The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.

    Published in:
    2021
    By:
    • Vaisitti, Tiziana;
    • Peritore, Daniela;
    • Magistroni, Paola;
    • Ricci, Andrea;
    • Lombardini, Letizia;
    • Gringeri, Enrico;
    • Catalano, Silvia;
    • Spada, Marco;
    • Sciveres, Marco;
    • Di Giorgio, Angelo;
    • Limongelli, Giuseppe;
    • Varrenti, Marisa;
    • Gerosa, Gino;
    • Terzi, Amedeo;
    • Napoleone, Carlo Pace;
    • Amodeo, Antonio;
    • Ragni, Luca;
    • Strologo, Luca dello;
    • Benetti, Elisa;
    • Fontana, Iris
    Publication type:
    journal article
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    Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

    Published in:
    2021
    By:
    • de Souza, Paulo Victor Sgobbi;
    • Pinto, Wladimir Bocca Vieira de Rezende;
    • Farias, Igor Braga;
    • Badia, Bruno de Mattos Lombardi;
    • Pinto, Icaro França Navarro;
    • Costa, Gustavo Carvalho;
    • Marin, Carolina Maria;
    • dos Santos Jorge, Ana Carolina;
    • Souto, Emília Correia;
    • Serrano, Paulo de Lima;
    • Machado, Roberta Ismael Lacerda;
    • Chieia, Marco Antônio Troccoli;
    • Bertini, Enrico;
    • Oliveira, Acary Souza Bulle
    Publication type:
    journal article
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    Mannose supplementation in PMM2-CDG.

    Published in:
    2021
    By:
    • Taday, Roman;
    • Park, Julien H.;
    • Grüneberg, Marianne;
    • DuChesne, Ingrid;
    • Reunert, Janine;
    • Marquardt, Thorsten
    Publication type:
    Letter
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    The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital.

    Published in:
    2021
    By:
    • Mittal, Nimish;
    • Mina, Daniel Santa;
    • McGillis, Laura;
    • Weinrib, Aliza;
    • Slepian, P. Maxwell;
    • Rachinsky, Maxim;
    • Buryk-Iggers, Stephanie;
    • Laflamme, Camille;
    • Lopez-Hernandez, Laura;
    • Hussey, Laura;
    • Katz, Joel;
    • McLean, Lianne;
    • Rozenberg, Dmitry;
    • Liu, Louis;
    • Tse, Yvonne;
    • Parker, Colleen;
    • Adler, Arnon;
    • Charames, George;
    • Bleakney, Robert;
    • Veillette, Christian
    Publication type:
    journal article
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    Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia.

    Published in:
    2021
    By:
    • Manara, Renzo;
    • Ponticorvo, Sara;
    • Perrotta, Silverio;
    • Barillari, Maria Rosaria;
    • Costa, Giuseppe;
    • Brotto, Davide;
    • Di Concilio, Rosanna;
    • Ciancio, Angela;
    • De Michele, Elisa;
    • Carafa, Pasquale Alessandro;
    • Canna, Antonietta;
    • Russo, Andrea Gerardo;
    • Troisi, Donato;
    • Caiazza, Martina;
    • Ammendola, Federica;
    • Roberti, Domenico;
    • Santoro, Claudia;
    • Picariello, Stefania;
    • Valentino, Maria Sole;
    • Inserra, Emanuela
    Publication type:
    journal article
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    10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.

    Published in:
    2021
    By:
    • Messiaen, Claude;
    • Racine, Caroline;
    • Khatim, Ahlem;
    • Soussand, Louis;
    • Odent, Sylvie;
    • Lacombe, Didier;
    • Manouvrier, Sylvie;
    • Edery, Patrick;
    • Sigaudy, Sabine;
    • Geneviève, David;
    • Thauvin-Robinet, Christel;
    • Pasquier, Laurent;
    • Petit, Florence;
    • Rossi, Massimiliano;
    • Willems, Marjolaine;
    • Attié-Bitach, Tania;
    • Roux-Levy, Pierre-Henry;
    • Demougeot, Laurent;
    • Slama, Lilia Ben;
    • Landais, Paul
    Publication type:
    journal article
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    Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.

    Published in:
    2021
    By:
    • Muntau, Ania C.;
    • Burlina, Alberto;
    • Eyskens, François;
    • Freisinger, Peter;
    • Leuzzi, Vincenzo;
    • Sivri, Hatice Serap;
    • Gramer, Gwendolyn;
    • Pazdírková, Renata;
    • Cleary, Maureen;
    • Lotz-Havla, Amelia S.;
    • Lane, Paul;
    • Alvarez, Ignacio;
    • Rutsch, Frank
    Publication type:
    journal article
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