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FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
BACKGROUND AND AIMS: Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global...
Autores principales: | Masnada, Silvia, Previtali, Roberto, Erba, Paola, Beretta, Elena, Camporesi, Anna, Chiapparini, Luisa, Doneda, Chiara, Iascone, Maria, Sartorio, Marco U. A., Spaccini, Luigina, Veggiotti, Pierangelo, Osio, Maurizio, Tonduti, Davide, Moroni, Isabella |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10096094/ https://www.ncbi.nlm.nih.gov/pubmed/37046037 http://dx.doi.org/10.1007/s10072-023-06790-0 |
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