Search Results - "rare diseases"

A survey of registered pharmacological clinical trials on rare neurological diseases in children in 2010-2020 by Xuting Chang, Jie Zhang, Yuwu Jiang, Meixia Shang, Ye Wu

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Scientific methodology and practical use of managed entry agreements for innovative medicines in system of health technology assessment in Ukraine by O. M. Zaliska, KH.-O. J. Stasiv

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Ligneous periodontitis exacerbated by Behçet's disease in a patient with plasminogen deficiency and a stop-gained variant PLG c.1468C > T: a case report by Yuki Shinoda-Ito, Anna Hirai, Kazuhiro Omori, Hidetaka Ideguchi, Hideki Yamamoto, Fumino Kato, Kyoichi Obata, Tatsuo Ogawa, Keisuke Nakano, Takato Nakadoi, Eri Katsuyama, Soichiro Ibaragi, Tadashi Yamamoto, Hitoshi Nagatsuka, Akira Hirasawa, Shogo Takashiba

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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen

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Do payers value rarity? An analysis of the relationship between disease rarity and orphan drug prices in Europe by Goran Medic, Daria Korchagina, Katherine Eve Young, Mondher Toumi, Maarten Jacobus Postma, Micheline Wille, Michiel Hemels

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Oncology drugs for orphan indications: how are HTA processes evolving for this specific drug category? by Adkins EM, Nicholson L, Floyd D, Ratcliffe M, Chevrou-Severac H

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A Prevalence Estimation of Exstrophy and Epispadias in Germany From Public Health Insurance Data by Anne-Karoline Ebert, Nadine Zwink, Heiko Martin Reutter, Heiko Martin Reutter, Ekkehart Jenetzky, Ekkehart Jenetzky

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A dedicated surveillance network for congenital toxoplasmosis in Greece, 2006-2009: assessment of the results by Aptouramani Maria, Theodoridou Maria, Syrogiannopoulos George, Mentis Andreas, Papaevangelou Vasiliki, Gaitana Katerina, Daponte Alexandros, Hadjichristodoulou Christos

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Drug Repurposing Molecular Aspects and Therapeutic Applications

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Crowd Funding for Orphan Drugs: The Case of Baby Pia by Wim Pinxten

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Giant epidermal inclusion cyst of the thyroid: a rare occurrence by Swagatika Samal, Mukund Sable, Pradeep Pradhan

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Alazami syndrome in an Afghani girl: A case report and review of literature by Mazen S Alzahrani1, Lynne M Bird2

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Erythromelalgia: Definition, clinical contexts, differential diagnosis, and therapy. Single case and literature update by Giulio Perrotta, Emanuele Guerrieri

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Cowchock Wapner Kurtz Syndrome: Giant and Lethal Neck Cystic Hygroma: A Case Report by Avina Fierro JA, Hernandez Avina DA

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Idiopathic Gingival Elephantiasis - A Case Report by Nasim Aarfa, Sasankoti Mohan Ravi Prakash, Malik S Sangeeta, Gupta Swati

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Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus by Prathima Sreenivasan, Faizal C. Peedikayil, Sumal V. Raj, Manasa Anand Meundi

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Association between pemphigus vulgaris and pyoderma gangrenosum by Ana M. Cano, Valentina Burbano, Ricardo A. Rueda

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Autoimmune Polyendocrine Syndromes in the Pediatric Age by Roberto Paparella, Michela Menghi, Ginevra Micangeli, Lucia Leonardi, Giovanni Profeta, Francesca Tarani, Carla Petrella, Giampiero Ferraguti, Marco Fiore, Luigi Tarani

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Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs) by Tomohiro Torii, Junji Yamauchi

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REGISTER OF PATIENTS AS AN EFFECTIVE METHOD OF DIAGNOSING PRIMARY IMMUNODEFICIENCIES by L. P. Sizyakina, I. I. Andreeva

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