Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Organic acidemias and urea cycle disorders are ultra-rare inborn errors of metabolism characterized by episodic acute decompensation, often associated with hyperammonemia, resulting in brain edema and encephalopathy. Retrospective reports and translational studies suggest that N-carbamylglutamate (N...

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Detalhes bibliográficos
Publicado no:Transl Sci Rare Dis
Main Authors: Ah Mew, Nicholas, Cnaan, Avital, McCarter, Robert, Choi, Henry, Glass, Penny, Rice, Katie, Scavo, Louis, Gillespie, Catherine W., Diaz, George A., Berry, Gerard T., Wong, Derek, Konczal, Laura, McCandless, Shawn E., Coughlin II, Curtis R., Weisfeld-Adams, James D., Ficicioglu, Can, Yudkoff, Mark, Enns, Gregory M., Lichter-Konecki, Uta, Gallagher, Renata, Tuchman, Mendel
Formato: Artigo
Idioma:Inglês
Publicado em: IOS Press 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6311376/
https://ncbi.nlm.nih.gov/pubmed/30613471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/TRD-180031
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