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Critical Care Medicine|February 8, 2011
Platelet cytochrome c oxidase activity and quantity in septic patientsLeonardo Lorente, María M Martín, Esther López-Gallardo, et al.
International Journal of Molecular Sciences|October 14, 2022
Pathological Features in Paediatric Patients with TK2 DeficiencyCristina Jou, Andres Nascimento, Anna Codina, et al.
Orphanet Journal of Rare Diseases|April 6, 2024
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigreeSonia Emperador, Mouna Habbane, Ester López-Gallardo, et al.
BMC Genomics|February 4, 2014
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathiesSusana Graciela Kalko, Sonia Paco, Cristina Jou, et al.
Plos One|February 12, 2016
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial DysfunctionRaquel Montero, Delia Yubero, Joan Villarroya, et al.
Journal of Clinical Medicine|January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseCristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
Scientific Reports|June 24, 2020
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyCristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, et al.
Brain : a Journal of Neurology|December 22, 2018
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, 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.
Mitochondrion|July 5, 2016
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disordersDelia Yubero, Raquel Montero, Miguel A Martín, et al.
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