Publikace
- Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review2019 | 1. lékařská fakulta
- Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review2019 | 1. lékařská fakulta
- Clinical Features of Lysosomal Acid Lipase Deficiency2015 | 1. lékařská fakulta
- Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe2014 | 1. lékařská fakulta
- Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease2013 | 1. lékařská fakulta
- A Prospective Study in Children With a Severe Form of Atopic Dermatitis: Clinical Outcome in Relation to Cytokine Gene Polymorphisms2012 | 1. lékařská fakulta
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | 1. lékařská fakulta
- Deficit lyzosomální kyselé lipázy - diferenciální diagnostika a možnosti léčby v roce 20222022 | 1. lékařská fakulta
- A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C2021 | 1. lékařská fakulta
- Adultní forma Pompeho nemoci2021 | 1. lékařská fakulta
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