Works about RARE diseases

Results: 5000
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    VEXAS Syndrome: An Overlooked Threat.

    Published in:
    Balkan Medical Journal, 2025, v. 42, n. 3, p. 185, doi. 10.4274/balkanmedj.galenos.2025.2025-170425
    By:
    • Uğurlu, Serdal;
    • Kılıç, Berkay
    Publication type:
    Article
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    Sporadic diffuse neurofibroma of the retropharyngeal space.

    Published in:
    ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 6, p. NP401, doi. 10.1177/01455613221109756
    By:
    • Colizza, Andrea;
    • Arienzo, Francesca;
    • Cambria, Francesca;
    • Messineo, Daniela;
    • Riminucci, Mara;
    • Covello, Renato;
    • De Vincentiis, Marco;
    • Corsi, Alessandro
    Publication type:
    Article
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    TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03692-6
    By:
    • Saier, Christina;
    • Sansen, Stefaan;
    • Berghout, Joanne;
    • Freyler, Kathrin;
    • Einhorn, Moshe;
    • Einhorn, Yaron;
    • Matalonga, Leslie;
    • Beltran, Sergi;
    • Novelli, Antonio;
    • Selvatici, Rita;
    • Fortunato, Fernanda;
    • Montanari, Silvia;
    • Martinez-Fresno, Maria;
    • Gumus, Gulcin;
    • Agolini, Emanuele;
    • Garnier, Nicolas;
    • Ferlini, Alessandra;
    • Bertini, Enrico;
    • Kirschner, Janbernd
    Publication type:
    Article
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    A 1.3-Year-Old Toddler Who Refused to Walk.

    Published in:
    Clinical Pediatrics, 2025, v. 64, n. 5, p. 736, doi. 10.1177/00099228241288982
    By:
    • Ben Nun Yaari, Efrat;
    • Ziv, Amit;
    • Kotz, Eugene;
    • Uziel, Yosef;
    • Haviv, Ruby
    Publication type:
    Article
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    Clinical Outcomes and Prognostic Factors for Extramammary Paget's Disease Treated with Radiation Therapy: A Multi-Institutional Observational Study.

    Published in:
    Cancers, 2025, v. 17, n. 9, p. 1507, doi. 10.3390/cancers17091507
    By:
    • Niwa, Masanari;
    • Tomita, Natsuo;
    • Ishiyama, Hiromichi;
    • Kaneko, Hijiri;
    • Oshima, Yukihiko;
    • Takano, Hirota;
    • Matsuo, Masayuki;
    • Kuno, Mayu;
    • Miyakawa, Akifumi;
    • Otsuka, Shinya;
    • Takaoka, Taiki;
    • Okazaki, Dai;
    • Torii, Akira;
    • Kita, Nozomi;
    • Takano, Seiya;
    • Nakamura, Motoki;
    • Kato, Hiroshi;
    • Morita, Akimichi;
    • Hiwatashi, Akio
    Publication type:
    Article
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    Rare Disease Drug Repurposing.

    Published in:
    JAMA Network Open, 2025, v. 8, n. 5, p. e258330, doi. 10.1001/jamanetworkopen.2025.8330
    By:
    • Nijim, Sally;
    • Korsunska, Ania;
    • Zinski, Joseph;
    • Bolden, Sarah E.;
    • Zuccato, Mary;
    • Repasky, Mileva;
    • Fajgenbaum, David C.
    Publication type:
    Article
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    Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03694-4
    By:
    • Stepien, Karolina M.;
    • Thomas, Sophie;
    • Hennermann, Julia B.;
    • Lampe, Christina;
    • Muschol, Nicole M.;
    • Ballesta-Martínez, Maria Juliana;
    • Cruz, Jordi;
    • López-Rodríguez, Mónica;
    • Barth, Anneliese;
    • Magner, Martin;
    • Lund, Allan M.;
    • Plaiasu, Vasilica;
    • Ballabeni, Andrea;
    • Donà, Francesca;
    • Morgan, Heather M.;
    • Guffon, Nathalie
    Publication type:
    Article
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    'Mind the Gap'—A Survey on Care Gaps and Priorities for the Transition to Adult Healthcare According to Caregivers of Young People With Rare Conditions Associated With Intellectual Disability.

    Published in:
    Journal of Intellectual Disability Research, 2025, v. 69, n. 6, p. 480, doi. 10.1111/jir.13229
    By:
    • Klein Haneveld, Mirthe J.;
    • Vyshka, Klea;
    • Gaasterland, Charlotte M. W.;
    • Grybek, Tomasz;
    • Świeczkowska, Katarzyna;
    • Van Staa, AnneLoes;
    • Van Eeghen, Agnies M.;
    • van Amelsvoort, Thérese A. M. J;
    • Bedeschi, Maria F.;
    • Behan, Claire;
    • Dufke, Andreas;
    • Dupont, Juliette;
    • Garavelli, Livia;
    • Helverschou, Sissel Berge;
    • Labunets, Kinga;
    • McAnallen, Susan;
    • Milska‐Musa, Katarzyna A.;
    • van Staa, AnneLoes;
    • Streată, Ioana;
    • Stumpel, Connie T. R. M.
    Publication type:
    Article
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