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Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency

Ornithine transcarbamylase deficiency is an X linked disorder and the most common inherited cause of hyperammonaemia. Fluctuating concentrations of ammonia, glutamine, and other excitotoxic amino acids result in a chronic or episodically recurring encephalopathy. A heterozygous female patient first...

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Detalhes bibliográficos
Main Authors: Oechsner, M, Steen, C, Sturenburg, H, Kohlschutter, A
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1998
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2170080/
https://ncbi.nlm.nih.gov/pubmed/9598692
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