Works in Orphanet Journal of Rare Diseases, 2023, Vol 18, Issue 1

Results: 372
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    Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02939-4
    By:
    • Serrano-Gonzalo, Irene;
    • de Frutos, Laura López;
    • Lahoz-Gil, Carlos;
    • Delgado-Mateos, Francisco;
    • Fernández-Galán, María Ángeles;
    • Morales-Conejo, Montserrat;
    • Calle-Gordo, María Victoria;
    • Ibarretxe-Gerediaga, Daiana;
    • Madinaveitia-Ochoa, Andrés;
    • Albarracin-Arraigosa, Antonio;
    • Balanzat-Muñoz, José;
    • Correcher-Medina, Patricia;
    • García-Frade, Luis Javier;
    • Hernández-Rivas, Jesús María;
    • Labbadia, Francesca;
    • López-Dupla, Jesus Miguel;
    • Lozano-Almela, María Luisa;
    • Mora-Casterá, Elvira;
    • Noya-Pereira, María Soledad;
    • Ruíz-Guinaldo, María Ángeles
    Publication type:
    Article
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    ∆<sup>4</sup>-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02984-z
    By:
    • Gardin, Antoine;
    • Ruiz, Mathias;
    • Beime, Jan;
    • Cananzi, Mara;
    • Rathert, Margarete;
    • Rohmer, Barbara;
    • Grabhorn, Enke;
    • Almes, Marion;
    • Logarajah, Veena;
    • Peña-Quintana, Luis;
    • Casswall, Thomas;
    • Darmellah-Remil, Amaria;
    • Reyes-Domínguez, Ana;
    • Barkaoui, Emna;
    • Hierro, Loreto;
    • Baquero-Montoya, Carolina;
    • Baumann, Ulrich;
    • Fischler, Björn;
    • Gonzales, Emmanuel;
    • Davit-Spraul, Anne
    Publication type:
    Article
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    Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
    By:
    • Wasserstein, Melissa P.;
    • Lachmann, Robin;
    • Hollak, Carla;
    • Barbato, Antonio;
    • Gallagher, Renata C.;
    • Giugliani, Roberto;
    • Guelbert, Norberto Bernardo;
    • Hennermann, Julia B.;
    • Ikezoe, Takayuki;
    • Lidove, Olivier;
    • Mabe, Paulina;
    • Mengel, Eugen;
    • Scarpa, Maurizio;
    • Senates, Ebubekir;
    • Tchan, Michel;
    • Villarrubia, Jesus;
    • Thurberg, Beth L.;
    • Yarramaneni, Abhimanyu;
    • Armstrong, Nicole M.;
    • Kim, Yong
    Publication type:
    Article
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    Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02934-9
    By:
    • Walton, Holly;
    • Ng, Pei Li;
    • Simpson, Amy;
    • Bloom, Lara;
    • Chitty, Lyn S.;
    • Fulop, Naomi J.;
    • Hunter, Amy;
    • Jones, Jennifer;
    • Kai, Joe;
    • Kerecuk, Larissa;
    • Kokocinska, Maria;
    • Leeson-Beevers, Kerry;
    • Parkes, Sharon;
    • Ramsay, Angus I. G.;
    • Sutcliffe, Alastair;
    • Taylor, Christine;
    • Morris, Stephen
    Publication type:
    Article
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    An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02954-5
    By:
    • Welters, Alena;
    • Leiter, Sarah M;
    • Bachmann, Nadine;
    • Bergmann, Carsten;
    • Hoermann, Henrike;
    • Korsch, Eckhard;
    • Meissner, Thomas;
    • Payne, Felicity;
    • Williams, Rachel;
    • Hussain, Khalid;
    • Semple, Robert K.;
    • Kummer, Sebastian
    Publication type:
    Article
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    Wolfram syndrome type 1: a case series.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02938-5
    By:
    • Du, Danyang;
    • Tuhuti, Aihemaitijiang;
    • Ma, Yanrong;
    • Abuduniyimu, Munila;
    • Li, Suli;
    • Ma, Guoying;
    • Zynat, Jazyra;
    • Guo, Yanying
    Publication type:
    Article
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    A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02962-5
    By:
    • Gentile, Luca;
    • Coelho, Teresa;
    • Dispenzieri, Angela;
    • Conceição, Isabel;
    • Waddington-Cruz, Márcia;
    • Kristen, Arnt;
    • Wixner, Jonas;
    • Diemberger, Igor;
    • Gonzalez-Moreno, Juan;
    • Cariou, Eve;
    • Maurer, Mathew S.;
    • Planté-Bordeneuve, Violaine;
    • Garcia-Pavia, Pablo;
    • Tournev, Ivailo;
    • Gonzalez-Costello, Jose;
    • Duarte, Alejandra Gonzalez;
    • Grogan, Martha;
    • Mazzeo, Anna;
    • Chapman, Doug;
    • Gupta, Pritam
    Publication type:
    Article
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    Incidence and survival of transthyretin amyloid cardiomyopathy from a French nationwide study of in- and out-patient databases.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02933-w
    By:
    • Damy, Thibaud;
    • Bourel, Guillaume;
    • Slama, Michel;
    • Algalarrondo, Vincent;
    • Lairez, Olivier;
    • Fournier, Pauline;
    • Costa, Jérôme;
    • Pelcot, Françoise;
    • Farrugia, Agnès;
    • Zaleski, Isabelle Durand;
    • Lilliu, Hervé;
    • Rault, Caroline;
    • Bartoli, Mathilde;
    • Fievez, Stéphane;
    • Granghaud, Anna;
    • Rudant, Jeremie;
    • Coste, Agathe;
    • Cosson, Charlotte Noirot;
    • Squara, Pierre-Alexandre;
    • Narbeburu, Marion
    Publication type:
    Article
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