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GPD1 Deficiency - Underdiagnosed Cause of Liver Disease.
Tesarova M, Stranecky V, Konecna P, Prochazkova D, Hulkova H, Zeman J, Honzik T, Magner M. Tesarova M, et al. Among authors: zeman j. Indian J Pediatr. 2021 Jan;88(1):80-81. doi: 10.1007/s12098-020-03385-x. Epub 2020 Jun 26. Indian J Pediatr. 2021. PMID: 32591995 No abstract available.
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Mazurova S, Magner M, Kucerova-Vidrova V, Vondrackova A, Stranecky V, Pristoupilova A, Zamecnik J, Hansikova H, Zeman J, Tesarova M, Honzik T. Mazurova S, et al. Among authors: zeman j. Cardiol Young. 2017 Jul;27(5):936-944. doi: 10.1017/S1047951116001876. Epub 2016 Nov 14. Cardiol Young. 2017. PMID: 27839525 Review.
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Tesarova M, Vondrackova A, Stufkova H, Veprekova L, Stranecky V, Berankova K, Hansikova H, Magner M, Galoova N, Honzik T, Vodickova E, Stary J, Zeman J. Tesarova M, et al. Among authors: zeman j. Pediatr Blood Cancer. 2019 Apr;66(4):e27591. doi: 10.1002/pbc.27591. Epub 2018 Dec 26. Pediatr Blood Cancer. 2019. PMID: 30588737
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 accumulation.
Ondruskova N, Honzik T, Vondrackova A, Stranecky V, Tesarova M, Zeman J, Hansikova H. Ondruskova N, et al. Among authors: zeman j. J Inherit Metab Dis. 2020 Jul;43(4):694-700. doi: 10.1002/jimd.12237. Epub 2020 Apr 7. J Inherit Metab Dis. 2020. PMID: 32216104 Free PMC article.
478 results