Reference
Peters, Heidi, et al. “ECHS1 Mutations in Leigh Disease: A New Inborn Error of Metabolism Affecting Valine Metabolism”. Brain, vol. 137, no. 11, July 2014, pp. 2903–2908, https://doi.org/10.1093/brain/awu216.
PubMed Reference Number (PMID)
25125611