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Article
Orphanet, Directeur de publication ; Rath A, Auteur ; Yamazaki M, Auteur | Orphanet | Rare Diseases collection | 11/2023Methodology Orphanet carries out a systematic survey of literature in order to estimate the prevalence and incidence of rare diseases. This study aims to collect new data regarding point prevalence, birth prevalence and incidence, and to update[...]Article
Orphanet, Directeur de publication ; Rath A, Auteur ; Yamazaki M, Auteur | Orphanet | Rare Diseases collection | 11/2023Methodology Orphanet carries out a systematic survey of literature in order to estimate the prevalence and incidence of rare diseases. This study aims to collect new data regarding point prevalence, birth prevalence and incidence, and to update[...]Article
Orphanet, Directeur de publication ; Rath A, Auteur ; Cruciani M, Auteur ; Sauvage F, Validateur | Orphanet | Rare Diseases collection | 04/2023Table of contents Methodology and objectives p3 Genomics deposition and analysis platform p4 Biobanking, biospecimens, cell lines, animal models, patient registries, pathogenic agents p8 Translational and clinical research p11 Chemical li[...]Article
Orphanet, Directeur de publication ; Rath A, Auteur ; Cruciani M, Auteur ; Sauvage F, Validateur | Orphanet | Rare Diseases collection | 04/2023Table of contents - Methodology and Objectives p3 - Total number of registries, cohorts and databases and distribution by country p4 - Active versus non-active patient registries, cohorts and databases p5 - Geocoverage of patient registries,[...]Article
Orphanet provides a comprehensive list of all rare diseases registered in the Orphanet database, published annually. In Orphanet, rare diseases are defined using the following approach: • Every entity is defined by its clinical homogeneity, re[...]Article
Methodology A systematic survey of the literature is being performed in order to provide an estimate of the prevalence of rare diseases in Europe. An updated report will be published regularly and will replace the previous version. This update [...]Article
Methodology A systematic survey of the literature is being performed in order to provide an estimate of the prevalence of rare diseases in Europe. An updated report will be published regularly and will replace the previous version. This update [...]Article
Methodology A systematic survey of the literature is being performed in order to provide an estimate of the prevalence of rare diseases in Europe. An updated report will be published regularly and will replace the previous version. This update [...]Article
Methodology A systematic survey of the literature is being performed in order to provide an estimate of the prevalence of rare diseases in Europe. An updated report will be published regularly and will replace the previous version. This update [...]