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Cardiac magnetic resonance diagnosis of Fabry disease leads to incidental diagnosis of Klinefelter syndrome: a case report

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder resulting in deficient activity of alpha-galactosidase. Males are general more severely affected however heterozygous females can variably express the disease depending on the degree of random X chromosome inactivation (Lyonization)...

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Detalles Bibliográficos
Autores principales:	Binda, Giulia, Bridgman, John Cameron, Chapman, Ian, Selvanayagam, Joseph B
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9486915/ https://www.ncbi.nlm.nih.gov/pubmed/36131908 http://dx.doi.org/10.1093/ehjcr/ytac328

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