Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children

OBJECTIVE: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia and hyperexcretion of orotic acid. The aim of...

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Detalles Bibliográficos
Autores principales: Habib, Anasufiza, Mohamed Shakrin, Norashareena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019381/
https://www.ncbi.nlm.nih.gov/pubmed/35465134
http://dx.doi.org/10.1177/2632010X221093274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019381/
https://www.ncbi.nlm.nih.gov/pubmed/35465134
http://dx.doi.org/10.1177/2632010X221093274

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