- Leukodystrophy2003 | Second Faculty of Medicine
- Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C2021 | Central Library of Charles University
- Six-year follow-up of the adult form of metachromatic leukodystrophy2003 | Faculty of Physical Education and Sport
- Globoid cell leukodystrophy (Krebbe's disease). A series of Czech patients and a survey of current views of biology and differential2006 | Faculty of Physical Education and Sport
- Globoid cell leukodystrophy (Krebbe's disease). A series of Czech patients and a survey of current views of biology and differential2006 | Publication without faculty affiliation
- Adult form of Krabbe s Leukodystrophy.1999 | Faculty of Physical Education and Sport
- POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene2019 | First Faculty of Medicine, Central Library of Charles University
- Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy2013 | First Faculty of Medicine
- Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulphatase A in the endoplasmic reticulum2005 | First Faculty of Medicine
- Metachromatic leukodystrophy: biochemical and molecular studies in Czech and Slovak patientsPublication without faculty affiliation
- Metachromatic leukodystrophy in Czech and Slovak Republic - clinical and histochemical implicationPublication without faculty affiliation
- Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulphatase A in the endoplasmic reticulum2005 | Faculty of Physical Education and Sport
- Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients2004 | First Faculty of Medicine
- Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients2004 | Faculty of Physical Education and Sport
- Metachromatic leukodystrophy: Magnetic Resonance imaging (diffusion weighted image - DWI)2008 | 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
- Mutations c.459+1G>A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries2005 | Faculty of Physical Education and Sport
- Six-year follow-up of the adult form of metachromatic leukodystrophy2003 | 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
- Globoid Cell Leukodystrophy (Krabbe`s Disease). A series of Czech patients and a survey of current views of biology and differential diagnosis2006 | First Faculty of Medicine
- A series of Czech patients and a survey of current views of biology and differential diagnosis2006 | Second Faculty of Medicine
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve2004 | Second Faculty of Medicine
- Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses2016 | First Faculty of Medicine
- Variant alleles in methionine cycle: association study in patients with coronary artery disease (CAD) (2)Publication without faculty affiliation
- Pelizaeus-Merzbacher disease2014 | First Faculty of Medicine
- Neurogenetic and metabolic disorders in childhood2010 | First Faculty of Medicine
- Psychiatric manifestation of inborn errors of metabolism2015 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Advances in treatment of lysosomal storage diseases2022 | First Faculty of Medicine
- Neurodegeneration with brain iron accumulation2012 | First Faculty of Medicine
- Determination of Urinary Sulfatides and Other Lipids by Combination of Reversed-Phase and Thin-Layer Chromatographies.1999 | First Faculty of Medicine