Works matching IS 17501172 AND DT 2022 AND VI 17 AND IP 1

Results: 467
    1

    Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02605-1
    By:
    • Tu, Wei-Ting;
    • Hou, Ping-Chen;
    • Chen, Peng-Chieh;
    • Chen, Wan-Rung;
    • Huang, Hsin-Yu;
    • Wang, Jing-Yu;
    • Huang, Yi-Ting;
    • Wu, Yi-Huei;
    • Su, Chun-Lin;
    • Tang, Yen-An;
    • Iwata, Hiroaki;
    • Natsuga, Ken;
    • Chao, Sheau-Chiou;
    • Sun, H. Sunny;
    • Tang, Ming-Jer;
    • Lee, Julia Yu-Yun;
    • McGrath, John A.;
    • Hsu, Chao-Kai
    Publication type:
    Article
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    A multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome: a multicenter prospective observational study.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02588-z
    By:
    • Meier, Maartje E.;
    • Hagelstein-Rotman, Marlous;
    • van de Ven, Annenienke C.;
    • Van der Geest, Ingrid C. M.;
    • Donker, Olav;
    • Pichardo, Sarina E. C.;
    • Hissink Muller, Petra C. E.;
    • van der Meeren, Stijn W.;
    • Dorleijn, Desirée M. J.;
    • Winter, Elizabeth M.;
    • van de Sande, Michiel A. J.;
    • Appelman-Dijkstra, Natasha M.
    Publication type:
    Article
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    Rare disease education in Europe and beyond: time to act.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02527-y
    By:
    • Tumiene, Birute;
    • Peters, Harm;
    • Melegh, Bela;
    • Peterlin, Borut;
    • Utkus, Algirdas;
    • Fatkulina, Natalja;
    • Pfliegler, György;
    • Graessner, Holm;
    • Hermanns, Sanja;
    • Scarpa, Maurizio;
    • Blay, Jean-Yves;
    • Ashton, Sharon;
    • McKay, Lucy;
    • Baynam, Gareth
    Publication type:
    Article
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    Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02587-0
    By:
    • Diaz, George A.;
    • Giugliani, Roberto;
    • Guffon, Nathalie;
    • Jones, Simon A.;
    • Mengel, Eugen;
    • Scarpa, Maurizio;
    • Witters, Peter;
    • Yarramaneni, Abhimanyu;
    • Li, Jing;
    • Armstrong, Nicole M.;
    • Kim, Yong;
    • Ortemann-Renon, Catherine;
    • Kumar, Monica
    Publication type:
    Article
    16

    Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02558-5
    By:
    • dos Santos Vieira, Bruna;
    • Bernabé, César H.;
    • Zhang, Shuxin;
    • Abaza, Haitham;
    • Benis, Nirupama;
    • Cámara, Alberto;
    • Cornet, Ronald;
    • Le Cornec, Clémence M. A.;
    • ’t Hoen, Peter A. C.;
    • Schaefer, Franz;
    • van der Velde, K. Joeri;
    • Swertz, Morris A.;
    • Wilkinson, Mark D.;
    • Jacobsen, Annika;
    • Roos, Marco
    Publication type:
    Article
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    Identifying adult hypophosphatasia in the rheumatology unit.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02572-7
    By:
    • Feurstein, Julia;
    • Behanova, Martina;
    • Haschka, Judith;
    • Roetzer, Katharina;
    • Uyanik, Gökhan;
    • Hadzimuratovic, Benjamin;
    • Witsch-Baumgartner, Martina;
    • Schett, Georg;
    • Zwerina, Jochen;
    • Kocijan, Roland
    Publication type:
    Article
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    Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country.

    Published in:
    2022
    By:
    • Szor, Roberta Shcolnik;
    • Fernandes, Fabio;
    • Lino, Angelina Maria Martins;
    • Mendonça, Leonardo Oliveira;
    • Seguro, Fernanda Salles;
    • Feitosa, Valkercyo Araujo;
    • Castelli, Jussara Bianchi;
    • Jorge, Lecticia Barbosa;
    • de Oliveira Alves, Lucas Bassolli;
    • de Menezes Neves, Precil Diego Miranda;
    • de Oliveira Souza, Evandro;
    • Cavalcante, Livia Barreira;
    • Malheiros, Denise;
    • Kalil, Jorge;
    • Martinez, Gracia Aparecida;
    • Rocha, Vanderson
    Publication type:
    journal article
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    Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.

    Published in:
    2022
    By:
    • Corben, Louise A.;
    • Collins, Veronica;
    • Milne, Sarah;
    • Farmer, Jennifer;
    • Musheno, Ann;
    • Lynch, David;
    • Subramony, Sub;
    • Pandolfo, Massimo;
    • Schulz, Jörg B.;
    • Lin, Kim;
    • Delatycki, Martin B.;
    • the Clinical Management Guidelines Writing Group;
    • Akhlaghi, Hamed;
    • Bidichandani, Sanjay I.;
    • Boesch, Sylvia;
    • Cnop, Miriam;
    • Corti, Manuela;
    • Duquette, Antoine;
    • Durr, Alexandra;
    • Eigentler, Andreas
    Publication type:
    journal article
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    Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.

    Published in:
    2022
    By:
    • Kubaski, Francyne;
    • Burlina, Alberto;
    • Pereira, Danilo;
    • Silva, Camilo;
    • Herbst, Zackary M.;
    • Trapp, Franciele B.;
    • Michelin-Tirelli, Kristiane;
    • Lopes, Franciele F.;
    • Burin, Maira G.;
    • Brusius-Facchin, Ana Carolina;
    • Netto, Alice B. O.;
    • Poletto, Edina;
    • Bernardes, Tamires M.;
    • Carvalho, Gerson S.;
    • Sorte, Ney B.;
    • Ferreira, Fernanda N.;
    • Perin, Nilza;
    • Clivati, Marta R.;
    • de Santana, Marnie T. S.;
    • Lobos, Sandra F. G.
    Publication type:
    journal article
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