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Pyruvate Dehydrogenase Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit
Pyruvate dehydrogenase complex deficiency (PDCD) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. Structural brain abnormalities are common in PDCD. A case of a patient with PDCD with an unusual presentation is described. A 20-month-old boy with hypotonia and d...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sciendo
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534940/ https://www.ncbi.nlm.nih.gov/pubmed/31161145 http://dx.doi.org/10.2478/jccm-2019-0012 |