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Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients

BACKGROUND: Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5‐aminolevu...

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Detalles Bibliográficos
Autores principales: Martinez, María del Carmen, Cerbino, Gabriela Nora, Granata, Bárbara Xoana, Batlle, Alcira, Parera, Victoria Estela, Rossetti, María Victoria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172188/
https://www.ncbi.nlm.nih.gov/pubmed/33764674
http://dx.doi.org/10.1002/mgg3.1059