Works matching IS 17501172 AND DT 2025 AND VI 20 AND IP 1

Results: 304
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    Prevalence of vascular complications in Ehlers-Danlos syndrome: a systematic review and meta-analysis.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03854-6
    By:
    • Awad, Abdelaziz A.;
    • Yappalparvi, Ambana;
    • Khatib, Mahalaqua Nazli;
    • R, Roopashree;
    • Kaur, Mandeep;
    • Srivastava, Manish;
    • Barwal, Amit;
    • Prasad, G. V. Siva;
    • Rajput, Pranchal;
    • Syed, Rukshar;
    • Sharma, Gajendra;
    • Prasoon, Anand;
    • Shabil, Muhammed;
    • Punia, Ankit;
    • Jagga, Megha;
    • Mehta, Rachana;
    • Sah, Sanjit;
    • Satapathy, Prakasini;
    • Gaidhane, Abhay M;
    • Mawejje, Edward
    Publication type:
    Article
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    Caregiving burden among caregivers of people with myasthenia gravis.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03842-w
    By:
    • Dewilde, Sarah;
    • Tollenaar, Nafthali H.;
    • Boulanger, Pierre;
    • Archer, Annie;
    • Pardo, Raquel;
    • Cortés-Vicente, Elena;
    • Mantegazza, Renato;
    • Vanoli, Fiammetta;
    • Lehnerer, Sophie;
    • Pawlitzki, Marc;
    • Heinrich, Malgorzata;
    • De Ruyck, Femke;
    • Phillips, Glenn;
    • Paci, Sandra
    Publication type:
    Article
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    Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ).

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03642-2
    By:
    • Chambers, Nola;
    • Heunis, Tosca-Marie;
    • Gardner-Lubbe, Sugnet;
    • Capal, Jamie K.;
    • Bissell, Stacey;
    • Byars, Anna W.;
    • Cukier, Sebastián;
    • Davis, Peter E.;
    • Flinn, Jennifer;
    • Gipson, Tanjala T.;
    • Kingswood, J. Chris;
    • Kumm, Aubrey J.;
    • Schoeters, Eva;
    • Smith, Catherine;
    • Srivastava, Shoba;
    • Takei, Megumi;
    • Vanclooster, Stephanie;
    • van Eeghen, Agnies M.;
    • Waltereit, Robert;
    • Krueger, Darcy A.
    Publication type:
    Article
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    Liver transplantation in Wilson disease: a single-center experience.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03827-9
    By:
    • Beyzaei, Zahra;
    • Ghatei, Kiana;
    • Shamsaeefar, Alireza;
    • Kazemi, Kurosh;
    • Nikeghbalian, Saman;
    • Bahador, Ali;
    • Dehghani, Masoud;
    • Malekhosseini, Seyed-Ali;
    • Geramizadeh, Bita
    Publication type:
    Article
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    Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03821-1
    By:
    • Berenguer, Marina;
    • García-Villarreal, Luis;
    • Olveira, Antonio;
    • Mollina Pérez, Esther;
    • Moreno Planas, José María;
    • Romero-Gutiérrez, Marta;
    • Pinazo Bandera, José María;
    • Masnou Ridaura, Helena;
    • Iruzubieta, Paula;
    • González Diéguez, María Luisa;
    • Ampuero, Javier;
    • Fernández Ramos, José Ramón;
    • Muñoz, Carolina;
    • Arencibia Almeida, Ana;
    • Lorente, Sara;
    • Delgado Blanco, Manuel;
    • Burgos Santamaría, Diego;
    • Pons Delgado, Mònica;
    • Cachero, Alba;
    • Hernández Guerra, Manuel
    Publication type:
    Article
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    Open-label pilot study using hydroxytyrosol as dietary supplements in patients with mitochondrial diseases.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03795-0
    By:
    • Wong, Tsz Sum;
    • Man, Emily;
    • Wong, Ian Chi Kei;
    • Li, Shirley Xue;
    • Zhi, Hui;
    • Yeung, Ka Man Carmen;
    • Yip, Ka Yee;
    • Kwong, Anna Ka Yee;
    • Belaramani, Kiran Moti;
    • Wong, Suet Na;
    • Kwok, Anne Mei Kwun;
    • Mak, Miu;
    • Chan, Toby Chun Hei;
    • Lau, Pui Yee;
    • Kan, Yee Ling Elaine;
    • Wong, Kwok Chun;
    • Poon, Freddie;
    • Kwok, Vansie;
    • Li, Chun Yin Dick;
    • Lau, Paul
    Publication type:
    Article
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    Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03828-8
    By:
    • Grošelj, Urh;
    • Kavčič, Marko;
    • Drole Torkar, Ana;
    • Kafol, Jan;
    • Lainšček, Duško;
    • Jerala, Roman;
    • Sever, Matjaž;
    • Zver, Samo;
    • Serša, Gregor;
    • Čemažar, Maja;
    • Strojan, Primož;
    • Grošelj, Aleš;
    • Žerjav Tanšek, Mojca;
    • Miroševič, Špela;
    • Ivančan, Simona;
    • Prelog, Tomaž;
    • Gosar, David;
    • Oražem Mrak, Jasna;
    • Mlinarič, Matej;
    • Bertok, Sara
    Publication type:
    Article
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    Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03609-3
    By:
    • Vegas, Nancy;
    • Rio, Marlène;
    • Adnot, Pauline;
    • Soupre, Véronique;
    • Petit, Florence;
    • Ghoumid, Jamal;
    • Toutain, Annick;
    • Dieterich, Klaus;
    • Marey, Isabelle;
    • Gilbert-Dussardier, Brigitte;
    • Le Guyader, Gwenaël;
    • Francannet, Christine;
    • Schaefer, Elise;
    • Perrin, Laurence;
    • Nizon, Mathilde;
    • Beneteau, Claire;
    • Genevieve, David;
    • Willems, Marjolaine;
    • Faivre, Laurence;
    • Grimaldi, Marianne
    Publication type:
    Article
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