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Role of Handheld In Vivo Reflectance Confocal Microscopy for the Diagnosis of Fabry Disease: A Case Report

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase that leads to a systemic accumulation of globotriaosylceramide. Handheld in vivo reflectance confocal microscopy (HH-RCM) is a useful modern technique in diagnosi...

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Detalles Bibliográficos
Autores principales:	Cinotti, Elisa, Provvidenziale, Luca, Fimiani, Michele, Perrot, Jean Luc, Cambazard, Frederic, Rubegni, Pietro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6164009/ https://www.ncbi.nlm.nih.gov/pubmed/29954050 http://dx.doi.org/10.3390/diseases6030055

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