Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Claire Didszdun"'
Autor:
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch, on behalf of the EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract Background In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich’s Ataxia (FRDA), a genetic disorder usually caused by homozyg
Externí odkaz:
https://doaj.org/article/5093ab0bf570434e9b98ec903f32aa7e
Autor:
Wolfgang Nachbauer, Thomas Klopstock, Caterina Mariotti, Ludger Schöls, Alexandra Durr, Jörg B. Schulz, Massimo Pandolfo, Matthias Amprosi, Javier Arpa, Andreas Eigentler, Ilaria Giordano, Sylvia Boesch, Katrin Bürk, Elisabetta Indelicato, Raffaella Matteucci Gothe, Paola Giunti, Claire Didszdun
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), ⟨10.1186/s13023-020-01475-9⟩
Orphanet journal of rare diseases, 15 (1
Orphanet journal of rare diseases 15(1), 198 (2020). doi:10.1186/s13023-020-01475-9
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Orphanet Journal of Rare Diseases, 2020, 15 (1), ⟨10.1186/s13023-020-01475-9⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), ⟨10.1186/s13023-020-01475-9⟩
Orphanet journal of rare diseases, 15 (1
Orphanet journal of rare diseases 15(1), 198 (2020). doi:10.1186/s13023-020-01475-9
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Orphanet Journal of Rare Diseases, 2020, 15 (1), ⟨10.1186/s13023-020-01475-9⟩
Background: In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich's Ataxia (FRDA), a genetic disorder usually caused by homozygous GAA-re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a541365999a472ef3ae39fd5fb0d406e
https://doi.org/10.21203/rs.3.rs-18562/v1
https://doi.org/10.21203/rs.3.rs-18562/v1
Autor:
Indelicato, Elisabetta1 (AUTHOR), Nachbauer, Wolfgang1 (AUTHOR), Eigentler, Andreas1 (AUTHOR), Amprosi, Matthias1 (AUTHOR), Matteucci Gothe, Raffaella2 (AUTHOR), Giunti, Paola3 (AUTHOR), Mariotti, Caterina4 (AUTHOR), Arpa, Javier5 (AUTHOR), Durr, Alexandra6 (AUTHOR), Klopstock, Thomas7,8 (AUTHOR), Schöls, Ludger9,10 (AUTHOR), Giordano, Ilaria11,12 (AUTHOR), Bürk, Katrin13 (AUTHOR), Pandolfo, Massimo14 (AUTHOR), Didszdun, Claire15,16 (AUTHOR), Schulz, Jörg B.15,16 (AUTHOR), Boesch, Sylvia1 (AUTHOR) sylvia.boesch@i-med.ac.at, EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies) (CORPORATE AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 8/3/2020, Vol. 15 Issue 1, p1-8. 8p.