Onset features and time to diagnosis in Friedreich’s Ataxia

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-repeat expansions. METHODS: Six hundred eleven genet...

詳細記述

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書誌詳細
出版年:Orphanet J Rare Dis
主要な著者: Indelicato, Elisabetta, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Matteucci Gothe, Raffaella, Giunti, Paola, Mariotti, Caterina, Arpa, Javier, Durr, Alexandra, Klopstock, Thomas, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Didszdun, Claire, Schulz, Jörg B., Boesch, Sylvia
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2020
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7397644/
https://ncbi.nlm.nih.gov/pubmed/32746884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01475-9
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