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New Fabry disease mutation confirms cardiomyopathy aetiology: a case report

BACKGROUND: Aetiologic diagnosis should be a priority in cardiomyopathy patients, as some of them may benefit from efficient specific treatment. To achieve this, the best approach is to look for clinical and paraclinical ‘red flags’. CASE SUMMARY: A 55-year-old woman was referred to our centre with...

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Detalles Bibliográficos
Autores principales: Militaru, Sebastian, Saftoiu, Adrian, Streubel, Berthold, Jurcut, Ruxandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426068/
https://www.ncbi.nlm.nih.gov/pubmed/31020209
http://dx.doi.org/10.1093/ehjcr/yty133