Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A.
Nguengang Wakap S, et al.
Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16.
Eur J Hum Genet. 2020.
PMID: 31527858
Free PMC article.
Consequently national definitions of 'Rare Diseases' (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. ...This figure is deri …
Consequently national definitions of 'Rare Diseases' (ranging from prevalence of 5 to 80 per 100 000) represent a variable num …