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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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Martinez, María del Carmen, Cerbino, Gabriela Nora, Granata, Bárbara Xoana, Batlle, Alcira, Parera, Victoria Estela, Rossetti, María Victoria
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2021
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172188/
https://ncbi.nlm.nih.gov/pubmed/33764674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1059
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