- Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures2023 | First Faculty of Medicine
- International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome2018 | First Faculty of Medicine
- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | First Faculty of Medicine
- Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient2021 | First Faculty of Medicine, Third Faculty of Medicine
- Mucopolysaccharidosis type I-S in siblingsPublication without faculty affiliation
- Mucopolysaccharidosis type II (Hunter disease): Biochemical postnatal and prenatal diagnosisPublication without faculty affiliation
- Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I2010 | First Faculty of Medicine
- Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe2014 | First Faculty of Medicine
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease2011 | First Faculty of Medicine
- Mucopolysaccharidosis type I: Molecular studies of IDUA gene in Czech and Slovak populationsPublication without faculty affiliation
- Mutation analysis of the IDUA gene in Czech and Slovak patients with mucopolysaccharidosis type IPublication without faculty affiliation
- Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment2018 | First Faculty of Medicine
- Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient2018 | First Faculty of Medicine
- Molecular analysis of idua gene in 19 Czech and Slovak patients with mucopolysaccharidosis type IPublication without faculty affiliation
- Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II2018 | First Faculty of Medicine
- Mutation in TMEM76 are associated with acetyl coenzyme A: Alfa-glucosaminide A acetyltransferase deficiency in mucopolysaccharidosis type IIIc patientsPublication without faculty affiliation
- Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyPublication without faculty affiliation
- Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein2009 | First Faculty of Medicine
- X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female2016 | First Faculty of Medicine
- Large Proteoglycan Complexes and Disturbed Collagen Architecture in the Corneal Extracellular Matrix of Mucopolysaccharidosis Type VII (Sly Syndrome)2011 | First Faculty of Medicine
- Mucopolysaccharidosis type I in Czech and Slovak populations: identification of three novel mutations in the IDUA gene, characterization of haplotypes in mutant and kontrol allelesPublication without faculty affiliation
- The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)2013 | First Faculty of Medicine
- Development of a mnemonic screening tool for identifying subjects with Hunter syndrome2013 | First Faculty of Medicine
- GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase2009 | First Faculty of Medicine
- Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature2014 | First Faculty of Medicine
- Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure2012 | First Faculty of Medicine
- Effect of rapid cessation of enzyme replacement therapy: A report of 5 more cases2014 | First Faculty of Medicine
- HGSNAT has a TATA-less promoter with multiple starts of transcription2016 | First Faculty of Medicine
- Advances in treatment of lysosomal storage diseases2022 | First Faculty of Medicine
- Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure2007 | Second Faculty of Medicine