Diagnostics for rare diseases

“…Kingsmore a series of questions about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future.…”
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Policy for rare diseases

“…In this Q&A, Professor Gaspar provides insight into the regulatory approval and policy considerations for bringing novel therapies for rare diseases from discovery through to clinical application.…”
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Biomarkers in Rare Diseases by Bridget E. Bax

“…There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]…”
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Research of Accessibility of Rare Disease Drugs Based on the China's First List of Rare Diseases by LIU Qingyang, LIU Xin, WANG Shaohong, SHANG Junmei, TANG Yan, ZHANG Bo

Subjects: “…rare disease…”
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Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry by Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, Manuel Posada de la Paz, Verónica Alonso-Ferreira

Subjects: “…Rare diseases…”
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Orphan drugs and rare diseases / by Pryde, David C., editor, Palmer, Michael J., editor

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Genetic Testing for Rare Diseases by José M. Millán, Gema García-García

“…The term rare disease was coined in the 1970s to refer to diseases that have a low prevalence [...]…”
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Complement Inhibitors in Rare Diseases by YUE Cai, DU Yali, HUANG Yangyu, CHEN Limeng, GUAN Yuzhou, HAN Bing

“…This review summarizes the literature on the current application of complement inhibitors in rare diseases and looks into the prospects of the application in the rare diseases.…”
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National Registry of Rare Diseases by Yadnil Elizabeth Gómez Vázquez, Onelis Góngora Gómez

“…A rare disease is one that affects a small absolute number of people or a small population. …”
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Precision Medicine in Rare Diseases by Irene Villalón-García, Mónica Álvarez-Córdoba, Juan Miguel Suárez-Rivero, Suleva Povea-Cabello, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, José Antonio Sánchez-Alcázar

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Are drugs for rare diseases "essential"? by Marcus M Reidenberg

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Are drugs for rare diseases "essential"? by Marcus M Reidenberg

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Rare diseases and orphan drugs. by Aronson, J

New Pharmacological Approaches for Rare Diseases by Silvia Ortega-Gutiérrez

“…The expression “rare disease” describes a group of diseases whose individual prevalence is low (between 3.9 and 6.6 in 10,000 subjects depending on the country) but which in total affect up to the 3–6% of the worldwide population [...]…”
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Biomarkers in Rare Diseases 2.0 by Bridget E. Bax

“…It is estimated that there are over 7000 rare diseases, collectively affecting more than 350 million individuals worldwide [...]…”
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Author Correction: Diagnostics for rare diseases

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Coming together to combat rare diseases

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Esophageal papillomatosis: an exceedingly rare disease by Dandan Li, Changfeng Li, Yuxing Yan, Minya Liu

“…Orphanet Journal of Rare Diseases…”
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Pain Care Management in Rare Diseases by Emérito Carlos Rodríguez-Merchán, Matteo Nicola Dario Di Minno, Gianluigi Pasta

“…In this Special Issue on “Musculoskeletal Pain Care and Management in Rare Disease”, it is essential to make it clear that, while specialists in rare diseases (RDs) are often very knowledgeable about the management of the specific diseases in which they are experts, primary care physicians and other physicians who are not experts in a given disease often have very little contact with the patients who experience it [...]…”
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Epigenomic Approaches for the Diagnosis of Rare Diseases by Beatriz Martinez-Delgado, Maria J. Barrero

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