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Niemann-pick type C
Person
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Person
Publication
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Ing. Hana Pereira
External person at First Faculty of Medicine
4 publications
Publications
publication
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
2003 |
First Faculty of Medicine
publication
Mutational analysis of 23 Niemann-Pick type A and B patients - 20 novel mutations
Publication without faculty affiliation
publication
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
2005 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.
1997 |
Faculty of Physical Education and Sport
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