Publications
- 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
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations2009 | First Faculty of Medicine
- Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy2008 | First Faculty of Medicine
- Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients2008 | First Faculty of Medicine
- Tandem mass spectrometry of globotriaosylceramide: quantification in plasma and urine for diagnosis and therapy monitoring in Fabry disease +12007 | First Faculty of Medicine
- Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient2005 | First Faculty of Medicine
- Mutations c. 459+1G>A and p. P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries2005 | First Faculty of Medicine
- Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulphatase A in the endoplasmic reticulum2005 | First Faculty of Medicine
- Prosaposin deficinecy - a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient2005 | Faculty of Physical Education and Sport
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