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Neuro Endocrinology Letters|June 1, 2014
Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patientNina Ondruskova, Tomas Honzik, Alzbeta Vondrackova, et al.Journal of Inherited Metabolic Disease|March 28, 2020
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulationNina Ondruskova, Tomas Honzik, Alzbeta Vondrackova, et al.Journal of Human Genetics|May 18, 2012
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiencyAlzbeta Vondrackova, Katerina Vesela, Hana Hansikova, et al.Cardiology in the Young|November 15, 2016
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literatureStella Mazurova, Martin Magner, Vendula Kucerova-Vidrova, et al.Pediatric Blood & Cancer|December 28, 2018
Sideroblastic anemia associated with multisystem mitochondrial disordersMarketa Tesarova, Alzbeta Vondrackova, Hana Stufkova, et al.Pageof 1