Publications
- Clinical spectrum in CADASIL family with a new mutation2013 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families2013 | First Faculty of Medicine
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver2012 | First Faculty of Medicine, Third 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
- 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
- Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene2009 | First Faculty of Medicine
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Unusual cause of stroke: CADASIL with novel mutation in Czech patient2006 | First Faculty of Medicine, Third Faculty of Medicine
- Mutation in TMEM76 cause mucopolysacharidosis III C syndrome2006 | First Faculty of Medicine
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