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Niemann-Pick C
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Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
2017 |
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
Psychiatric manifestations of Niemann-Pick disease type C
2011 |
First Faculty of Medicine
publication
Diagnosis of Niemann-Pick type C (NPC) - Decisions at the cell level. Pathologist's report
2010 |
First Faculty of Medicine
publication
Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C
2016 |
First Faculty of Medicine
publication
Consensus clinical management guidelines for Niemann-Pick disease type C
2018 |
First Faculty of Medicine
publication
Cataplexy and sleep disorders in Niemann-Pick type C disease
2015 |
First Faculty of Medicine
publication
Niemann-Pick disease
2003 |
First Faculty of Medicine
publication
Psychiatric manifestations of Niemann-Pick disease type C in adults. First experience with genetic testing among psychiatric inpatients
2011 |
First Faculty of Medicine
publication
Diagnosis and Treatment Options for Niemann-Pick Disease Type C
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Use of electroconvulsive therapy in the treatment of organic catatonia in patient suffering from Niemann-Pick disease type C
2017 |
First Faculty of Medicine
publication
Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics
2020 |
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
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
2016 |
First Faculty of Medicine
publication
Niemann-Pick disease from the perspective of psychiatry
2012 |
First Faculty of Medicine
publication
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
2007 |
Second Faculty of Medicine
publication
Hypocretin system dysfunction in Niemann-Pick disease (Type C)
Publication without faculty affiliation
publication
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C
2021 |
First Faculty of Medicine
publication
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
2003 |
First Faculty of Medicine
publication
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
2003 |
Faculty of Physical Education and Sport
publication
Niemann-Pick disease type C. An overview of current knowledge and diagnostic problems
Publication without faculty affiliation
publication
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease Type C
2003 |
First Faculty of Medicine
publication
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease Type C
2003 |
Faculty of Physical Education and Sport
publication
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
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review
2019 |
First Faculty of Medicine
publication
Niemann-Pick disease type C - a complete study of Czech and Slovak patients
Publication without faculty affiliation
publication
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
2014 |
First Faculty of Medicine
publication
Mutational analysis of 23 Niemann-Pick type A and B patients - 20 novel mutations
Publication without faculty affiliation
publication
Hypocretin deficiency and changes of sleep structures in patients with Niemann- Pick's disease type C
Publication without faculty affiliation
publication
Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease
2016 |
First Faculty of Medicine