Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report

BACKGROUND: Propionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamylglutamate ameliorates hyperammonemia in decompensated propionic acidemia. Th...

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Detalles Bibliográficos
Autores principales: Tummolo, Albina, Melpignano, Livio, Carella, Antonella, Di Mauro, Anna Maria, Piccinno, Elvira, Vendemiale, Marcella, Ortolani, Federica, Fedele, Stefania, Masciopinto, Maristella, Papadia, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911373/
https://www.ncbi.nlm.nih.gov/pubmed/29679984
http://dx.doi.org/10.1186/s13256-018-1631-1

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