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Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

Hyperglycemia is a rare presenting symptom of mitochondrial disorders. We report a case of a young girl who presented shortly after birth with ketoacidosis, hyperlactatemia, hyperammonemia, and insulin-responsive hyperglycemia. Initial metabolic work-up suggested mitochondrial dysfunction. Given our...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Anastasio, Natascia, Tarailo-Graovac, Maja, Al-Khalifah, Reem, Legault, Laurent, Drogemoller, Britt, Ross, Colin J.D., Wasserman, Wyeth W., van Karnebeek, Clara, Buhas, Daniela
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388639/
https://ncbi.nlm.nih.gov/pubmed/27074787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_557
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