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A Unique Case of Pyruvate Carboxylase Deficiency

Pyruvate carboxylase (PC) converts pyruvate to oxaloacetate, which is an important step in gluconeogenesis. Pyruvate carboxylase deficiency (PCD) is a rare inherited metabolic disorder characterized by movement disorders, neurologic disturbances, hypoglycemia, lactic acidosis, hyperammonemia, and el...

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Bibliografiske detaljer
Udgivet i:Cureus
Main Authors: Hidalgo, Jessica, Campoverde, Leticia, Ortiz, Juan Fernando, Ruxmohan, Samir, Eissa-Garcés, Ahmed
Format: Artigo
Sprog:Inglês
Udgivet: Cureus 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8202815/
https://ncbi.nlm.nih.gov/pubmed/34150393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.15042
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