Publications
- Diagnosis and Treatment Options for Niemann-Pick Disease Type C2012 | First Faculty of Medicine, Third Faculty of Medicine
- X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients2012 | First Faculty of Medicine
- Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia2011 | First Faculty of Medicine
- An Unusual Cause of Renal Amyloidosis Secondary to Gout - the First Description of Familial Occurrence2006 | First Faculty of Medicine, Third Faculty of Medicine
- Lower extrermitics pain as a first sign of metabolic disorders2006 | First Faculty of Medicine
- Post-exercise acute rhabdomyolysis - benign sign or symptom of serious muscular disease?2006 | First Faculty of Medicine
- Metabolic compendium 20062005 | First Faculty of Medicine
- Novel mutation in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiencyPublication without faculty affiliation
- The first polymorphism causing an amino acid exchange in the ALDP-gene. Eight novel mutations and three polymorphisms in patients with X-linked adrenoleukodystrophyPublication without faculty affiliation
- Molecular study in five girls with metabolic disorder of OTCPublication without faculty affiliation
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