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Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis
BACKGROUND: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, but life-threatening protein misfolding disorder due to TTR gene mutations. Cardiomyopathy (ATTRv-CM) and polyneuropathy (ATTRv-PN) with early small nerve fibre involvement are the most common manifestations. Timely diag...
Autores principales: | Thimm, Andreas, Carpinteiro, Alexander, Oubari, Sara, Papathanasiou, Maria, Kessler, Lukas, Rischpler, Christoph, Malik, Rayaz Ahmed, Herrmann, Ken, Reinhardt, Hans Christian, Rassaf, Tienush, Kleinschnitz, Christoph, Hagenacker, Tim, Stettner, Mark |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267010/ https://www.ncbi.nlm.nih.gov/pubmed/37014422 http://dx.doi.org/10.1007/s00415-023-11689-z |
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