Publikace
- Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study2005 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Dual hereditary jaundice: simultaneous occurence of mutations causing Gilbert's and Dubin-Johnson syndrome2005 | 1. lékařská fakulta, 3. lékařská fakulta
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | 1. lékařská fakulta
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expresion2005 | Fakulta tělesné výchovy a sportu
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | Fakulta tělesné výchovy a sportu
- Undiscovered lysosomal β-galactosidase deficiency in the patient suffering from spondyloepimetaphyseal dysplasiaPublikace bez příslušnosti k fakultě
- Protein aggregation - a common cause of cystathionine beta-synthase deficiencyPublikace bez příslušnosti k fakultě
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