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Niemann-Pick type C disease
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Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease
2022 |
First Faculty of Medicine
publication
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
2006 |
First Faculty of Medicine
publication
Cataplexy and sleep disorders in Niemann-Pick type C disease
2015 |
First Faculty of Medicine
publication
Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics
2020 |
First Faculty of Medicine
publication
Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementary group). Report of a case
2001 |
First Faculty of Medicine
publication
A random finding of splenomegaly as the main symptom leading to the diagnosis of Niemann‑Pick type B disease in an adult patient
2023 |
First Faculty of Medicine
publication
Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat
2011 |
First Faculty of Medicine
publication
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
2017 |
First Faculty of Medicine