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Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria

Background: The effect of long-term N-carbamylglutamate (NCG) treatment on the rate and severity of decompensations due to propionic aciduria (PA) and methylmalonic aciduria (MMA) is unknown. This paper presents clinical experience from a single-centre cohort of patients with PA and MMA who received...

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Principais autores: Alberto Burlina, Chiara Cazzorla, Elisa Zanonato, Emanuela Viggiano, Ilaria Fasan, Giulia Polo
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2016-09-01
Serier:Molecular Genetics and Metabolism Reports
Fag:
Metabolic decompensation
Methylmalonic aciduria
N-carbamylglutamate
Organic acidurias
Propionic aciduria
Online adgang:http://www.sciencedirect.com/science/article/pii/S2214426916300465
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