- 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
- A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation2001 | First Faculty of Medicine
- Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin2007 | First Faculty of Medicine
- Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin2007 | Faculty of Physical Education and Sport
- Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient2005 | First Faculty of Medicine
- Free ceramides in prosaposin deficiency and in Farber diseasePublication without faculty affiliation
- 1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiencyPublication without faculty affiliation
- Prosaposin deficiency due to 1BP deletion in SAP B domain: The evidence for functional SAP A deficiency due to nonsense-mediated decayPublication without faculty affiliation
- Prosaposin deficinecy - a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient2005 | Faculty of Physical Education and Sport
- Prosaposin deficiency due to 1BP deletion in SAP B domain: the evidence for functional SAP A deficiency due to nonsense-mediated mRNA decayPublication without faculty affiliation
- Prosaposin deficiency due to 1BP deletion in SAP B domain: the evidence for functional SAP A deficiency due to nonsense-mediated decayPublication without faculty affiliation
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | 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