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Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation

Urea cycle disorders (UCDs) result from inherited defects in the ammonia detoxification pathway, leading to episodes of hyperammonaemia and encephalopathy. The purpose of this study was to answer the question, “what is the likely plasma amino acid profile of a patient known to have a UCD presenting...

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Detalhes bibliográficos
Main Authors: Rodney, S., Boneh, A.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565665/
https://ncbi.nlm.nih.gov/pubmed/23430554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_186
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