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Pyroglutamic Acidemia: An Underrecognized and Underdiagnosed Cause of High Anion Gap Metabolic Acidosis - A Case Report and Review of Literature

Pyroglutamic acidemia (oxoprolinemia) is an underrecognized cause of high anion gap acidosis resulting from derangement in the gamma-glutamyl cycle. Pyroglutamic acidemia is most commonly diagnosed in the pediatric population in patients with inherited autosomal recessive enzyme deficiencies. Howeve...

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Detalhes bibliográficos
Publicado no:Cureus
Main Authors: Venkataraman, Sidish S, Regone, Rachel, Ammar, Hussam M, Govindu, Rukma R
Formato: Artigo
Idioma:Inglês
Publicado em: Cureus 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6758980/
https://ncbi.nlm.nih.gov/pubmed/31565630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.5229
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