Search Results - "rare diseases"

Rare Kidney Diseases New Translational Research Approach to Improve Diagnosis and Therapy

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Evaluation of orphan diseases global burden by Ekaterina V Makarova, Ivan S Krysanov, Tatiana P Valilyeva, Mikhail D Vasiliev, Rena A Zinchenko

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Surfacing undiagnosed disease: consideration, counting and coding by Megan F. Baxter, Megan F. Baxter, Michele Hansen, Michele Hansen, Dylan Gration, Tudor Groza, Tudor Groza, Gareth Baynam, Gareth Baynam, Gareth Baynam

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Licensing of Orphan Medicinal Products-Use of Real-World Data and Other External Data on Efficacy Aspects in Marketing Authorization Applications Concluded at the European Medicine... by Frauke Naumann-Winter, Franziska Wolter, Ulrike Hermes, Eva Malikova, Eva Malikova, Nils Lilienthal, Tania Meier, Maria Elisabeth Kalland, Armando Magrelli

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Criteria adopted in different models of public healthcare systems for the evaluation of reimbursement recommendations of orphan drugs: a scoping review. by Arturo Felippini, Luiza Vasconcelos Biglia, Tácio Mendonça Lima, Patricia Melo Aguiar

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Study protocol: a multicenter, uncontrolled, open-label study of palivizumab in neonates, infants, and preschool children at high risk of severe respiratory syncytial virus infecti... by Masaaki Mori, Shinichi Watabe, Tomoaki Taguchi, Hisaya Hasegawa, Mika Ishige, Naoyuki Tanuma, Akihiro Hirakawa, Ryuji Koike, Satoshi Kusuda

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Oligodontia and Facial Phenotype Associated with a Rare Syndrome by Fatima Ezzahra Zidane, Mustapha El Alloussi

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Precision Medicines' Impact on Orphan Drug Designation by Christine M. Mueller, Gayatri R. Rao, Katherine I. Miller Needleman

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The impact of COVID-19 pandemic on dermatology patients with rare skin diseases by Migena Vargu, Sabina Dedej, Ermira Vasili

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Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders by Sweta Shah, Marc Marie Dooms, Sofia Amaral-Garcia, Mariana Igoillo-Esteve

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Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation by Cláudia de Freitas, Vanessa dos Reis, Susana Silva, Paula A. Videira, Eva Morava, Jaak Jaeken

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Necesidades sanitarias y socioeducativas de niños con enfermedades raras de tipo metabólico y sus familias: estudio cualitativo en un hospital de tercer nivel by Eva María Tejada-Ortigosa, Katherine Flores-Rojas, Laura Moreno-Quintana, María Carmen Muñoz-Villanueva, Juan Luis Pérez-Navero, Mercedes Gil-Campos

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Examining Why the Canadian Federal Government Placed an Orphan Drug Strategy on Their Decision Agenda Now by Mark Gary Embrett

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Disruptions in the Cystic Fibrosis Community's Experiences and Concerns During the COVID-19 Pandemic: Topic Modeling and Time Series Analysis of Reddit Comments by Lean Franzl Yao, Kiki Ferawati, Kongmeng Liew, Shoko Wakamiya, Eiji Aramaki

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Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis by Titgemeyer, Sarah Catrin, Schaaf, Christian Patrick

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Challenges Faced By Families of SMA Patients by Burçin Aysu, Neriman Aral, Serkan Yılmaz, Fatih Aydoğdu

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Epidemiology and Healthcare Utilization in Pediatric Multiple Sclerosis and Neuromyelitis Optica: A Nationwide Population-Based Study in South Korea (2016-2020) by Hyewon Woo, Junho Hwang, Sun Ah Choi, Soo Ahn Chae

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Rare genetic skeletal disorders: Evolving terminology, therapies, education and advocacy by Laura L. Tosi, MD

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Perspective on Similarities and Possible Overlaps of Congenital Disease Formation-Exemplified on a Case of Congenital Diaphragmatic Hernia and Neuroblastoma in a Neonate by Zihe Huo, Remo Bilang, Benedikt Brantner, Nicolas von der Weid, Stefan G. Holland-Cunz, Stephanie J. Gros

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"Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome by Cristina García-Bravo, Domingo Palacios-Ceña, Elisabet Huertas-Hoyas, Jorge Pérez-Corrales, Sergio Serrada-Tejeda, Marta Pérez-, Javier Gueita-Rodríguez, Rosa Mª Martínez-Piédrola

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