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
- Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their correlation with Neurological Findings2018 | 1. lékařská fakulta
- Cataplexy and sleep disorders in Niemann-Pick type C disease2015 | 1. lékařská fakulta
- Clinical Features of Lysosomal Acid Lipase Deficiency2015 | 1. lékařská fakulta
- Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature2014 | 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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