Regarding the estimations of people affected by rare diseases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-00763-z.pdf
Reference10 articles.
1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73.
2. Vicente E, Pruneda L, Ardanaz E. Paradoja de la rareza: a propósito del porcentaje de población afectada por enfermedades raras [Paradox of rarity: about the percentage of population affected by rare diseases]. Gac Sanit. 2020;34:536–8.
3. Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease terminology and definitions - a systematic global review: report of the ISPOR rare disease special interest group. Value Heal. 2015;18:906–14.
4. Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, et al. How many rare diseases are there? Nat Rev Drug Disco. 2020;19:77–8.
5. Rare diseases and orphan products: accelerating research and development. Washington, DC: The National Academies Press; 2010.
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