Epileptic phenotypes in children with early‐onset mitochondrial diseases
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.13130
Abstract: To determine the prevalence of epilepsy in children with early‐onset mitochondrial diseases (MDs) and to evaluate the epileptic phenotypes and associated features. read more here.
Keywords: early onset; onset mitochondrial; mitochondrial diseases; epileptic phenotypes ... See more keywords
Lactate metabolism is essential in early-onset mitochondrial myopathy
Sign Up to like & getrecommendations! Published in 2023 at "Science Advances"
DOI: 10.1126/sciadv.add3216
Abstract: Myopathies secondary to mitochondrial electron transport chain (ETC) dysfunction can result in devastating disease. While the consequences of ETC defects have been extensively studied in culture, little in vivo data are available. Using a mouse… read more here.
Keywords: essential early; metabolism essential; lactate metabolism; early onset ... See more keywords