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Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.Journal of Inherited Metabolic Disease|June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathwayKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.Pageof 6