Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia

BACKGROUND: Hereditary coproporphyria (HCPO) is a low-penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, predominantly motor dysfunction, and centr...

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Detalles Bibliográficos
Autores principales: Jiménez-Jiménez, Félix Javier, Agúndez, José A. G., Martínez, Carmen, Navacerrada, Francisco, Plaza-Nieto, José Francisco, Pilo-de-la-Fuente, Belén, Alonso-Navarro, Hortensia, García-Martín, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2013
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777436/
https://www.ncbi.nlm.nih.gov/pubmed/24156084

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