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Journal of Inherited Metabolic Disease|May 31, 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiencyMartina Huemer, Regina Mulder-Bleile, Patricie Burda, et al.Ebiomedicine|March 7, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant LoadYi Shiau Ng, Nichola Z Lax, Paul Maddison, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.Archives of Neurology|June 14, 2006
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD studyMei Sun, Jeanne C Latourelle, G Frederick Wooten, et al.Iscience|February 28, 2022
Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19Jun Wang, Prasanti Kotagiri, Paul A Lyons, et al.The EMBO Journal|October 31, 2020
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencyDenisa Hathazi, Helen Griffin, Matthew J Jennings, et al.Journal of Hepatology|August 7, 2025
Successful AAV8 gene therapy on hepatic ex situ machine perfusion for mitochondrial neurogastrointestinal encephalomyopathyTeresa Brevini, Lisa Swift, Helen Reynolds, et al.American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.Journal of Medical Genetics|April 1, 2018
Retrospective natural history of thymidine kinase 2 deficiencyCaterina Garone, Robert W Taylor, Andrés Nascimento, et al.Pageof 37