- 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
- 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
- 1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiencyPublication without faculty affiliation
- Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient2005 | First Faculty of Medicine
- Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder2022 | First Faculty of Medicine
- Biochemistry of Fabry Disease2010 | 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
- Comparative Transcriptomic Exploration Reveals Unique Molecular Adaptations of Neuropathogenic Trichobilharzia to Invade and Parasitize Its Avian Definitive Host2016 | Faculty of Science
- Tandem mass spectrometry of sphingolipids: Application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism2012 | First Faculty of Medicine
