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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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| Publicado no: | Diseases |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6164009/ https://ncbi.nlm.nih.gov/pubmed/29954050 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diseases6030055 |
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