Article
Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients.
Molecular genetics & genomic medicine - 1 May 2021
Martinez María Del Carmen, Cerbino Gabriela Nora, Granata Bárbara Xoana, Batlle Alcira, Parera Victoria Estela, Rossetti María Victoria
Abstract excerpt
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-aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an...
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