Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center

Arginase deficiency (ARG1d) is an inborn error of metabolism caused by pathogenic variants in ARG1 gene, which causes a defective hydrolysis of arginine (Arg) to urea and ornithine. The molecular landscape of ARG1d in Mexico is poorly known. In this study, we present for the first time the clinical...

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Bibliographic Details
Main Authors: M. Vela-Amieva, C. Fernández-Lainez, S. Guillén-López, L. López-Mejía, M.A. Alcántara-Ortigoza, A. González del Angel, L. Fernández-Hernández, M.E. Reyna-Fabián, B. Estandía-Ortega, I. Ibarra-González, S.W. Ryu, H. Lee
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Rare diseases
Urea cycle disorders
Hyperammonemia
Newborn screening
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000539
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http://www.sciencedirect.com/science/article/pii/S2214426925000539

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