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Acta Ophthalmologica|February 20, 2016
Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-upRebecka Åkebrand, Susann Andersson, Antovan K Seyedi Honarvar, et al.Neurology|April 14, 2026
A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and SurvivalAntri Savvidou, Kalliopi Sofou, Sofia Thunström, et al.Neuromuscular Disorders : NMD|January 14, 2009
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletionGittan Kollberg, Niklas Darin, Karin Benan, et al.BMC Biochemistry|November 5, 2003
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinisNiklas Darin, Norman Kadhom, Jean-Jacques Brière, et al.European Journal of Human Genetics : EJHG|July 12, 2012
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathySara Roos, Niklas Darin, Gittan Kollberg, et al.European Journal of Human Genetics : EJHG|March 20, 2023
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemiaCarola Hedberg-Oldfors, Sanhita Mitra, Angela Molinaro, et al.Pediatrics|December 7, 2007
Mitochondrial disease: a practical approach for primary care physiciansRichard H Haas, Sumit Parikh, Marni J Falk, et al.Neuromuscular Disorders : NMD|October 20, 2006
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophyEva L Arkblad, Niklas Darin, Kerstin Berg, et al.European Journal of Pediatrics|November 24, 2004
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha geneMár Tulinius, Niklas Darin, Lars-Martin Wiklund, et al.Journal of Inherited Metabolic Disease|December 7, 2021
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based studyAntri Savvidou, Liz Ivarsson, Karin Naess, et al.Pageof 10