Publications
- Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports2013 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | First Faculty of Medicine
- Disorder of Growth and Development in a Boy with X-bound Ichthyosis, Protracted Delivery and Low Level of Estriol in the Mother during Pregnancy2009 | First Faculty of Medicine
- Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis2008 | First Faculty of Medicine
- IFabry disease - clinical manifestations and genetics. What do the effects seen in females with Fabry disease depend upon?2006 | First Faculty of Medicine
- Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study2005 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures2023 | First Faculty of Medicine
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | First Faculty of Medicine
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | First Faculty of Medicine
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