Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference40 articles.
1. Pyruvate dehydrogenase deficiency – morphological and metabolic effects, creation of animal model to study and research for treatment therapy;Ebertowska;Folia Morphol,2020
2. Ketone bodies as a possible adjuvant to ketogenic diet in PDHc deficiency but not in GLUT1 deficiency;Habarou;JIMD Rep,2018
3. Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency;Ostergaard;J Inherit Metab Dis,2009
4. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype;Okajima;Mol Genet Metab,2006
5. Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation;Joao Silva;Eur J Pediatr,2009
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