Suggested guidelines for the diagnosis and management of urea cycle disorders

Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Pati...

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Detalles Bibliográficos
Autores principales: Häberle, Johannes, Boddaert, Nathalie, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Huemer, Martina, Karall, Daniela, Martinelli, Diego, Crespo, Pablo Sanjurjo, Santer, René, Servais, Aude, Valayannopoulos, Vassili, Lindner, Martin, Rubio, Vicente, Dionisi-Vici, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488504/
https://www.ncbi.nlm.nih.gov/pubmed/22642880
http://dx.doi.org/10.1186/1750-1172-7-32

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488504/
https://www.ncbi.nlm.nih.gov/pubmed/22642880
http://dx.doi.org/10.1186/1750-1172-7-32

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