Works about RARE diseases

Results: 5000
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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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    Drug Development for Target Ribosomal Protein rpL35/uL29 for Repair of LAMB3R635X in Rare Skin Disease Epidermolysis Bullosa.

    Published in:
    Skin Pharmacology & Physiology, 2021, v. 34, n. 4, p. 167, doi. 10.1159/000513260
    By:
    • Rathner, Adriana;
    • Rathner, Petr;
    • Friedrich, Andreas;
    • Wießner, Michael;
    • Kitzler, Christian Manuel;
    • Schernthaner, Jan;
    • Karl, Thomas;
    • Krauß, Jan;
    • Lottspeich, Friedrich;
    • Mewes, Werner;
    • Hintner, Helmut;
    • Bauer, Johann W.;
    • Breitenbach, Michael;
    • Müller, Norbert;
    • Breitenbach-Koller, Hannelore;
    • von Hagen, Jörg
    Publication type:
    Article
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    Endomyocardial fibrosis: missing tricuspid valve and Fontan-like circulation.

    Published in:
    Heart & Vessels, 2016, v. 31, n. 9, p. 1579, doi. 10.1007/s00380-015-0792-8
    By:
    • Shiraishi, Yasuyuki;
    • Kohno, Takashi;
    • Fujii-Nishimura, Yoko;
    • Shimoda, Masayuki;
    • Ikeda, Yoshihiko;
    • Nakajima, Kazuaki;
    • Nishiyama, Takahiko;
    • Nishiyama, Nobuhiro;
    • Murata, Mitsushige;
    • Maekawa, Yuichiro;
    • Sano, Motoaki;
    • Fukuda, Keiichi
    Publication type:
    Article
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    Cavernous mesenteric lymphangioma (2006: 4b).

    Published in:
    European Radiology, 2006, v. 16, n. 7, p. 1625, doi. 10.1007/s00330-005-0106-0
    By:
    • Woo Jeong Jeong;
    • Yongsoo Kim;
    • Soon-Young Song;
    • Jung Nam Heo;
    • Choong Ki Park
    Publication type:
    Article