Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

AIMS: Danon disease (DD) is a rare X‐linked disorder caused by mutations in the lysosomal‐associated membrane protein type 2 gene (LAMP2). DD is difficult to distinguish from other causes of dilated or hypertrophic cardiomyopathy (HCM) in female patients. As DD female patients regularly progress int...

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Detalles Bibliográficos
Autores principales: Gurka, Jiri, Piherova, Lenka, Majer, Filip, Chaloupka, Anna, Zakova, Daniela, Pelak, Ondrej, Krebsova, Alice, Peichl, Petr, Krejci, Jan, Freiberger, Tomas, Melenovsky, Vojtech, Kautzner, Josef, Kalina, Tomas, Sikora, Jakub, Kubanek, Milos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524080/
https://www.ncbi.nlm.nih.gov/pubmed/32657043
http://dx.doi.org/10.1002/ehf2.12823

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