Neurophysiological characteristics in argininemia: a case report.
Sign Up to like & getrecommendations! Published in 2021 at "Translational pediatrics"
DOI: 10.21037/tp-21-112
Abstract: Argininemia is a rare inherited disorder characterized by progressive spastic paraplegia, leading by mutation of the ARG1 gene. Liver transplantation (LT) had been reported to prevent symptoms progression, while its pathophysiology is still unclear. A… read more here.
Keywords: argininemia; characteristics argininemia; argininemia case; neurophysiological characteristics ... See more keywords
Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease
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DOI: 10.3390/app14041647
Abstract: Argininemia or arginase-1 deficiency constitutes a rare, genetic, metabolic disorder caused by mutations in arginase 1—the last enzyme of the urea cycle—that hydrolyses L-arginine to ornithine and urea. The disease is associated with progressive development… read more here.
Keywords: novel methods; methods evaluation; disease; argininemia ... See more keywords