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Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M, Sikora J, Magner M, Wiederlechnerová H, Černá A, Poupětová H, Štorkánova G, Mušálková D, Dostálová G, Goláň L, Linhart A, Dvořáková L. Řeboun M, et al. Among authors: magner m. Am J Med Genet A. 2022 Jul;188(7):1979-1989. doi: 10.1002/ajmg.a.62728. Epub 2022 Mar 26. Am J Med Genet A. 2022. PMID: 35338595
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: magner m. 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.
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Malinová V, Poupětová H, Řeboun M, Dvořáková L, Reichmannová S, Švandová I, Murgašová L, Kasper DC, Magner M. Malinová V, et al. Among authors: magner m. Int J Mol Sci. 2023 Sep 22;24(19):14440. doi: 10.3390/ijms241914440. Int J Mol Sci. 2023. PMID: 37833892 Free PMC article.
On the way to early diagnosis.
Magner M. Magner M. Eur J Paediatr Neurol. 2024 Jan;48:A4. doi: 10.1016/j.ejpn.2024.02.012. Epub 2024 Feb 22. Eur J Paediatr Neurol. 2024. PMID: 38403569 No abstract available.
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L. Vazna A, et al. Among authors: magner m. Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812. Am J Med Genet A. 2009. PMID: 19396826 Free PMC article.
105 results