A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets...
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
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Author / Creator
Atalaia, Antonio , Thompson, Rachel , Corvo, Alberto , Carmody, Leigh , Piscia, Davide , Matalonga, Leslie , Macaya, Alfons , Lochmuller, Angela , Fontaine, Bertrand , Zurek, Birte , Hernandez-Ferrer, Carles , Reinhard, Carola , Gómez-Andrés, David , Desaphy, Jean-François , Schon, Katherine , Lohmann, Katja , Jennings, Matthew J. , Synofzik, Matthis , Riess, Olaf , Yaou, Rabah Ben , Evangelista, Teresinha , Ratnaike, Thiloka , Bros-Facer, Virginie , Gumus, Gulcin , Horvath, Rita , Chinnery, Patrick , Laurie, Steven , Graessner, Holm , Robinson, Peter , Lochmuller, Hanns , Beltran, Sergi and Bonne, Gisèle
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific therapeuti...
Alternative Titles
Full title
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Authors, Artists and Contributors
Author / Creator
Thompson, Rachel
Corvo, Alberto
Carmody, Leigh
Piscia, Davide
Matalonga, Leslie
Macaya, Alfons
Lochmuller, Angela
Fontaine, Bertrand
Zurek, Birte
Hernandez-Ferrer, Carles
Reinhard, Carola
Gómez-Andrés, David
Desaphy, Jean-François
Schon, Katherine
Lohmann, Katja
Jennings, Matthew J.
Synofzik, Matthis
Riess, Olaf
Yaou, Rabah Ben
Evangelista, Teresinha
Ratnaike, Thiloka
Bros-Facer, Virginie
Gumus, Gulcin
Horvath, Rita
Chinnery, Patrick
Laurie, Steven
Graessner, Holm
Robinson, Peter
Lochmuller, Hanns
Beltran, Sergi
Bonne, Gisèle
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_70206dc27674413fa32490ea7b8a6294
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_70206dc27674413fa32490ea7b8a6294
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01493-7
