Publications
- Protein aggregation - a common cause of cystathionine beta-synthase deficiencyPublication without faculty affiliation
- Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study2005 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Dual hereditary jaundice: simultaneous occurence of mutations causing Gilbert's and Dubin-Johnson syndrome2005 | First Faculty of Medicine, Third Faculty of Medicine
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | First Faculty of Medicine
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expresion2005 | Faculty of Physical Education and Sport
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | Faculty of Physical Education and Sport
- Undiscovered lysosomal β-galactosidase deficiency in the patient suffering from spondyloepimetaphyseal dysplasiaPublication without faculty affiliation
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