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
- Mutational analysis of 23 Niemann-Pick type A and B patients - 20 novel mutationsPublikace bez příslušnosti k fakultě
- Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients2003 | 1. lékařská fakulta
- Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.1997 | Fakulta tělesné výchovy a sportu
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