- Diagnostics of lysosomal storage disorders2019 | First Faculty of Medicine
- Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study2005 | First Faculty of Medicine
- M. Pompe and Lysosomal Storage DisordersPublication without faculty affiliation
- Cardiomyopathy in Fabry disease and other lysosomal storage disorders2006 | First Faculty of Medicine
- The heart in Anderson-Fabry disease and other lysosomal storage disorders2007 | First Faculty of Medicine
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Apoptosis in cultivated fibroblasts harbouring mitochondrial and lysosomal storage disordersPublication without faculty affiliation
- Impact of lysosomal storage disorders on mitochondrial ultrastructure and function in cultivated fibroblastsPublication without faculty affiliation
- Lysosomal Storage Disorders - Substrat Reduction Therapy in Niemann Pick C and Gaucher DiseasePublication without faculty affiliation
- Study of apoptotic events in cultivated fibroblasts harbouring mitochondrial and lysosomal storage disordersPublication without faculty affiliation
- Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy2010 | First Faculty of Medicine
- Rheumatological misdiagnosis of Anderson-Fabry disease, a treatable lysosomal storage disorder - Data from the European Fabry Outcome Survey (2)Publication without faculty affiliation
- Rheumatological misdiagnosis of Anderson-Fabry disease, a treatable lysosomal storage disorder - Data from the European Fabry Outcome Survey (1)Publication without faculty affiliation
- Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography2000 | First Faculty of Medicine, Faculty of Physical Education and Sport
- International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome2018 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | First Faculty of Medicine
- Pompe disease2018 | First Faculty of Medicine
- Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis2016 | First Faculty of Medicine
- Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures2023 | First Faculty of Medicine
- Mucopolysaccharidosis I - clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | Second Faculty of Medicine
- Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease2015 | First Faculty of Medicine
- Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus2021 | First Faculty of Medicine
- Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses2016 | First Faculty of Medicine
- Advances in treatment of lysosomal storage diseases2022 | First Faculty of Medicine
- Tandem mass spectrometry of sphingolipids: Application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism2012 | First Faculty of Medicine
- Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans2010 | First Faculty of Medicine
- Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure2012 | First Faculty of Medicine
- Fabry disease - lysosomal storage disease with multiorgan involvement.2012 | First Faculty of Medicine
- Fabry disease, an overview and the most common neurological manifestations2018 | First Faculty of Medicine
- Gaucher disease and lysosomal disorders - current options in evaluation and therapy2016 | First Faculty of Medicine