Works matching IS 17501172 AND DT 2024 AND VI 19

Results: 447
    1

    Turner Syndrome where are we?

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03337-0
    By:
    • Khan, Najma;
    • Farooqui, Anam;
    • Ishrat, Romana
    Publication type:
    Article
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    The value of the reflective discussion in decision-making using multi-criteria decision analysis (MCDA): an example of determining the value contribution of tabelecleucel for the treatment of the Epstein Barr virus-positive post-transplant lymphoproliferative disease (EBV<sup>+</sup> PTLD)

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03324-5
    By:
    • Badia, Xavier;
    • Calleja, Miguel Ángel;
    • Escudero-Vilaplana, Vicente;
    • Pérez-Martínez, Antonio;
    • Piñana, José Luis;
    • Poveda, José Luis;
    • Vallès, Joan-Antoni
    Publication type:
    Article
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    Long-term safety and influence on growth in patients receiving sirolimus: a pooled analysis.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03243-5
    By:
    • Wang, Yang-Yang;
    • Zou, Li-Ping;
    • Xu, Kai-Feng;
    • Xu, Wen-Shuai;
    • Zhang, Meng-Na;
    • Lu, Qian;
    • Tian, Xin-Lun;
    • Pang, Ling-Yu;
    • He, Wen;
    • Wang, Qiu-Hong;
    • Gao, Yang;
    • Liu, Li-Ying;
    • Chen, Xiao-Qiao;
    • Ma, Shu-Fang;
    • Chen, Hui-Min;
    • Dun, Shuo;
    • Yang, Xiao-Yan;
    • Luo, Xiao-Mei;
    • Huang, Lu-Lu;
    • Li, Yu-Fen
    Publication type:
    Article
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    How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03312-9
    By:
    • Ahmadi, Najia;
    • Zoch, Michele;
    • Guengoeze, Oya;
    • Facchinello, Carlo;
    • Mondorf, Antonia;
    • Stratmann, Katharina;
    • Musleh, Khader;
    • Erasmus, Hans-Peter;
    • Tchertov, Jana;
    • Gebler, Richard;
    • Schaaf, Jannik;
    • Frischen, Lena S.;
    • Nasirian, Azadeh;
    • Dai, Jiabin;
    • Henke, Elisa;
    • Tremblay, Douglas;
    • Srisuwananukorn, Andrew;
    • Bornhäuser, Martin;
    • Röllig, Christoph;
    • Eckardt, Jan-Niklas
    Publication type:
    Article
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    Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03313-8
    By:
    • Kaufmann, Walter E.;
    • Percy, Alan K.;
    • Neul, Jeffrey L.;
    • Downs, Jenny;
    • Leonard, Helen;
    • Nues, Paige;
    • Sharma, Girish D.;
    • Bartolotta, Theresa E.;
    • Townend, Gillian S.;
    • Curfs, Leopold M. G.;
    • Mariotti, Orietta;
    • Buda, Claude;
    • O'Leary, Heather M.;
    • Oberman, Lindsay M.;
    • Vogel-Farley, Vanessa;
    • Barnes, Katherine V.;
    • Missling, Christopher U.
    Publication type:
    Article
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    Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03300-z
    By:
    • Sheth, Jayesh;
    • Nair, Aadhira;
    • Sheth, Frenny;
    • Ajagekar, Manali;
    • Dhondekar, Tejasvi;
    • Panigrahi, Inusha;
    • Bavdekar, Ashish;
    • Nampoothiri, Sheela;
    • Datar, Chaitanya;
    • Gandhi, Ajit;
    • Muranjan, Mamta;
    • Kaur, Anupriya;
    • Desai, Manisha;
    • Mistri, Mehul;
    • Patel, Chitra;
    • Naik, Premal;
    • Shah, Maulin;
    • Godbole, Koumudi;
    • Kapoor, Seema;
    • Gupta, Neerja
    Publication type:
    Article
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    Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03203-z
    By:
    • Whitehall, Kaleigh B.;
    • Rose, Sarah;
    • Clague, Gillian E.;
    • Ahring, Kirsten K.;
    • Bilder, Deborah A.;
    • Harding, Cary O.;
    • Hermida, Álvaro;
    • Inwood, Anita;
    • Longo, Nicola;
    • Maillot, François;
    • Muntau, Ania C.;
    • Pessoa, André L. S.;
    • Rocha, Júlio C.;
    • Rohr, Fran;
    • Sivri, Serap;
    • Said, Jack;
    • Oshinbolu, Sheun;
    • Sibbring, Gillian C.
    Publication type:
    Article
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    A human centred innovative approach based on persona in hereditary angioedema.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03302-x
    By:
    • Perego, Francesca;
    • Zingale, Lorenza Chiara;
    • Cesoni Marcelli, Azzurra;
    • Ranucci, Luca;
    • Rimoldi, Lorenzo;
    • Nsanbayeva, Nurgul;
    • Natale, Maria Rosaria;
    • Dalla Vecchia, Laura Adelaide;
    • Gorini, Alessandra
    Publication type:
    Article
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    Acid sphingomyelinase deficiency in France: a retrospective survival study.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03234-6
    By:
    • Mauhin, Wladimir;
    • Guffon, Nathalie;
    • Vanier, Marie T.;
    • Froissart, Roseline;
    • Cano, Aline;
    • Douillard, Claire;
    • Lavigne, Christian;
    • Héron, Bénédicte;
    • Belmatoug, Nadia;
    • Uzunhan, Yurdagül;
    • Lacombe, Didier;
    • Levade, Thierry;
    • Duvivier, Aymeric;
    • Pulikottil-Jacob, Ruth;
    • Laredo, Fernando;
    • Pichard, Samia;
    • Lidove, Olivier;
    • Abi-Wardé, Marie-Thérèse;
    • Berger, Marc;
    • Berthoux, Emilie
    Publication type:
    Article
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    Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03297-5
    By:
    • Wallis, Mathew;
    • Bodek, Simon D.;
    • Munro, Jacob;
    • Rafehi, Haloom;
    • Bennett, Mark F.;
    • Ye, Zimeng;
    • Schneider, Amy;
    • Gardiner, Fiona;
    • Valente, Giulia;
    • Murdoch, Emma;
    • Uebergang, Eloise;
    • Hunter, Jacquie;
    • Stutterd, Chloe;
    • Huq, Aamira;
    • Salmon, Lucinda;
    • Scheffer, Ingrid;
    • Eratne, Dhamidhu;
    • Meyn, Stephen;
    • Fong, Chun Y.;
    • John, Tom
    Publication type:
    Article
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    DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03298-4
    By:
    • Glenthøj, Andreas;
    • Rasmussen, Andreas Ørslev;
    • Bendtsen, Selma Kofoed;
    • Hasle, Henrik;
    • Hoffmann, Marianne;
    • Rieneck, Klaus;
    • Dziegiel, Morten Hanefeld;
    • Sjö, Lene Dissing;
    • Frederiksen, Henrik;
    • Hansen, Dennis Lund;
    • Fassi, Daniel El;
    • Rathe, Mathias;
    • Jensen, Peter-Diedrich Matthias;
    • Winther-Larsen, Anne;
    • Nielsen, Christian;
    • Olsen, Marianne;
    • Toft, Nina;
    • Lorenzen, Mads Okkels Birk;
    • Jensen, Lise Heilmann;
    • Gudbrandsdottir, Sif
    Publication type:
    Article
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    A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03200-2
    By:
    • Trevisan, Valentina;
    • De Corso, Eugenio;
    • Viscogliosi, Germana;
    • Onesimo, Roberta;
    • Cina, Alessandro;
    • Panfili, Marco;
    • Perri, Lucrezia;
    • Agazzi, Cristiana;
    • Giorgio, Valentina;
    • Rigante, Donato;
    • Vento, Giovanni;
    • Papacci, Patrizia;
    • Paradiso, Filomena Valentina;
    • Silvaroli, Sara;
    • Nanni, Lorenzo;
    • Resta, Nicoletta;
    • Castori, Marco;
    • Galli, Jacopo;
    • Paludetti, Gaetano;
    • Zampino, Giuseppe
    Publication type:
    Article
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    Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03281-z
    By:
    • Fernandes, Fábio;
    • Luzuriaga, Georgina del Cisne Jadán;
    • da Fonseca, Guilherme Wesley Peixoto;
    • Correia, Edileide Barros;
    • Carvalho, Alzira Alves Siqueira;
    • Macedo, Ariane Vieira Scarlatelli;
    • Coelho-Filho, Otavio Rizzi;
    • Scheinberg, Phillip;
    • Antunes, Murillo Oliveira;
    • Schwartzmann, Pedro Vellosa;
    • Mangini, Sandrigo;
    • Marques, Wilson;
    • Simões, Marcus Vinicius
    Publication type:
    Article
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