Search Results - "rare diseases"

Expert consensus on the off-label use in China of drugs for rare hematologic diseases (2024 edition) by Boxin Zhao, Boxin Zhao, Xuan Zhou, Ping Zheng, Ping Zheng, Bo Zhang, Bo Zhang, Xiaoqin Feng, Jie Chen, Lisheng Cai, Yilu Chen, Liya He, Jianfen Su, Shuqin Cheng, Yingtong Zeng, Guowei Li, Bo Ji, Jianlong Wu, Weiyi Feng, Maobai Liu, Yiran Jin, Taotao Liu, Xiaolan Mo, Junyan Wu, Hui Wu, Hongliang Zhang, Zhichang Zheng, Zhihua Zheng, Jing Sun, Yilei Li, Yilei Li, Guangdong Pharmaceutical Association, Hematology Group of Rare Disease Expert Committee of Guangdong Pharmaceutical Association

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Erythropoietin Receptor (EpoR) Agonism Is Used to Treat a Wide Range of Disease by Fabian Sanchis-Gomar, Carme Perez-Quilis, Giuseppe Lippi

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Computational drug discovery approaches identify mebendazole as a candidate treatment for autosomal dominant polycystic kidney disease by Philip W. Brownjohn, Azedine Zoufir, Daniel J. O'Donovan, Saatviga Sudhahar, Alexander Syme, Rosemary Huckvale, John R. Porter, Hester Bange, Jane Brennan, Neil T. Thompson

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Clinical, diagnostic and treatment of mental disorders as a component of epilepsy by Aliyev NA, Aliyev ZN

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Demora diagnóstica en enfermedades raras: entre el miedo y la resiliencia by Lucía Páramo-Rodríguez, Clara Cavero-Carbonell, Sandra Guardiola-Vilarroig, Aurora López-Maside, M. Eugenia González Sanjuán, Óscar Zurriaga

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Quality of Life and Physical Activity in 629 Individuals With Sarcoidosis: Prospective, Cross-sectional Study Using Smartphones (Sarcoidosis App) by Brian Chu, Daniel M O'Connor, Marilyn Wan, Ian Barnett, Haochang Shou, Marc Judson, Misha Rosenbach

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The Odyssey from Symptom to Diagnosis of Pulmonary Hypertension from the Patients and Spouses Perspective by Bodil Ivarsson, Anders Johansson, Barbro Kjellström

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Access to Innovative Neurological Drugs in Europe: Alignment of Health Technology Assessments Among Three European Countries by Lucia Gozzo, Lucia Gozzo, Giovanni Luca Romano, Serena Brancati, Marco Cicciù, Luca Fiorillo, Laura Longo, Daniela Cristina Vitale, Filippo Drago, Filippo Drago, Filippo Drago

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Cross-national comparative study of orphan drug policies in Saudi Arabia, the United States, and the European Union by Bander Balkhi, Asma Almuaither, Saeed Alqahtani

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Comparative Analysis for the Performance of Long-Read-Based Structural Variation Detection Pipelines in Tandem Repeat Regions by Mingkun Guo, Shihai Li, Yifan Zhou, Menglong Li, Zhining Wen, Zhining Wen

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When should we think about Fabry disease? by Natalia Chojnacka, Radosław Cymer, Karolina Jurasz, Dominika Podgórska, Ewa Rzeska, Miłosz Sanecki, Karolina Tomczyk, Jakub Klarycki

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Rett syndrome: The Natural History Study journey by Alan K. Percy, Timothy A. Benke, Eric D. Marsh, Jeffrey L. Neul

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Social Resources for Transplanted Children and Families in European Union Hospitals of ERN TransplantChild by María Jesús Pascau, Laura Pruneda, Ilaria de Barbieri, Matilde Correia, Belén López, Erika Guijarro, Gonzalo Sofío, Esteban Frauca Remacha, Paloma Jara Vega, on behalf of ERN TransplantChild Healthcare Working Group

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A disease-specific iPS cell resource for studying rare and intractable diseases by Megumu K. Saito, Mitsujiro Osawa, Nao Tsuchida, Kotaro Shiraishi, Akira Niwa, Knut Woltjen, Isao Asaka, Katsuhisa Ogata, Suminobu Ito, Shuzo Kobayashi, Shinya Yamanaka

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Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals by Yuko Ishizaki, Mari Matsuo, Kayoko Saito, Yoko Fujihira

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Towards Achieving Equity and Innovation in Newborn Screening across Europe by Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham

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Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families by Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu, Xiaodong Wang

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Anti-Interleukin 17A Biologic Therapy Attempts on Livedoid Vasculopathy: A Report of Case Series by Qi F, Gao Y, Jin H

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Congenital Telangiectatic Erythema: Scoping Review by Magda Sara Wojtara, Jayne Kang, Mohammed Zaman

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Clinical pharmacology information in regulatory submissions and labeling: A comparative analysis of orphan and non‐orphan drugs approved by the FDA by Julie Hsieh, Martina Sahre, Xinning Yang, Rajanikanth Madabushi, Anuradha Ramamoorthy

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