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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Main Authors: 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
Format: Artigo
Language:Inglês
Published: Columbia University Libraries/Information Services 2013
Subjects:
Case Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3777436/
https://ncbi.nlm.nih.gov/pubmed/24156084
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