Código QR (código de barras bidimensional)

Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease

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 of spasticity and other symptoms, includin...

ver descrição completa

Na minha lista:
Principais autores: Despoina Nteli, Maria Nteli, Konstantinos Konstantinidis, Anastasia Foka, Foteini Charisi, Iliana Michailidou, Sotiria Stavropoulou De Lorenzo, Marina Boziki, Maria Tzitiridou-Chatzopoulou, Evangelia Spandou, Constantina Simeonidou, Christos Bakirtzis, Evangelia Kesidou
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2024-02-01
coleção:Applied Sciences
Assuntos:
argininemia
arginase-1 deficiency
urea cycle disorders
inborn errors of metabolism
guanidino compounds
neurotoxicity
Acesso em linha:https://www.mdpi.com/2076-3417/14/4/1647
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados