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Adult Refsum Disease in Puerto Rico: A Case Report

Patients with adult Refsum Disease (ARD) have retinitis pigmentosa and thus nyctalopia, anosmia, sensorineural deafness, polyneuropathy, and ataxia. Upon physical examination, patients with ARD have congenital short metacarpals, metatarsals, and cardiac arrhythmias. Manifestations due to the lack of...

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Detalles Bibliográficos
Autores principales:	Ramos-Sánchez, Raúl Y, López-Fontanet, José J, Izquierdo, Natalio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10581862/ https://www.ncbi.nlm.nih.gov/pubmed/37859930 http://dx.doi.org/10.7759/cureus.45426

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