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Molecular Genetics and Metabolism|October 11, 2025
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunctionJ Ganesh, C Donnelly, A Ligezka, et al.Journal of Neurology|August 19, 2007
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screeningS Vermeer, H P H Kremer, Q H Leijten, et al.Mitochondrion|June 25, 2010
Depressive behaviour in children diagnosed with a mitochondrial disorderE Morava, T Gardeitchik, T Kozicz, et al.Journal of Inherited Metabolic Disease|April 15, 2017
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyS Balasubramaniam, L G Riley, D Bratkovic, et al.Biochemical and Biophysical Research Communications|November 24, 1999
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiencyM J Coenen, L P van den Heuvel, L G Nijtmans, et al.Journal of Affective Disorders|August 12, 2008
Major depression in adolescent children consecutively diagnosed with mitochondrial disorderS Koene, T L Kozicz, R J T Rodenburg, et al.Molecular Genetics and Metabolism|March 11, 2006
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylationS Wortmann, R J T Rodenburg, M Huizing, et al.JIMD Reports|June 5, 2013
Socio-emotional Problems in Children with CDGK F E van de Loo, L van Dongen, M Mohamed, et al.Orphanet Journal of Rare Diseases|October 30, 2022
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionalsC Pascoal, I Ferreira, C Teixeira, et al.European Journal of Human Genetics : EJHG|November 1, 2007
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylationE Morava, D J Lefeber, Z Urban, et al.Pageof 9