Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency

Arginase deficiency is a rare autosomal recessive urea cycle disorder (UCD) caused by mutations in the ARG1 gene encoding arginase that catalyses the hydrolysis of arginine to ornithine and urea. Patients have hyperargininaemia and progressive neurological impairment but generally suffer fewer metab...

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Detalles Bibliográficos
Autores principales: Keshavan, Nandaki, Wood, Michelle, Alderson, Lucy M., Cortina‐Borja, Mario, Skeath, Rachel, McSweeney, Mel, Dixon, Marjorie, Cleary, Maureen A., Footitt, Emma, Batzios, Spyros
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898719/
https://www.ncbi.nlm.nih.gov/pubmed/35281666
http://dx.doi.org/10.1002/jmd2.12266

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