Hyperargininemia: a rare diagnosis in adulthood

Background: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage. Very few cases are diagnosed in adulthood, with the majority being diagno...

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Bibliographic Details
Main Authors: Carolina Freitas Henriques, Rui Fernandes, Francisco Barreto, Rubina Miranda, Teresa Carolina Aguiar
Format: Article
Language:English
Published: SMC MEDIA SRL 2024-03-01
Series:European Journal of Case Reports in Internal Medicine
Subjects:
Online Access:https://www.ejcrim.com/index.php/EJCRIM/article/view/4379