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sphingomyelinase
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Neutral sphingomyelinase 2 inhibitors based on the pyrazolo[1,5-a] scaffold
2023 |
Faculty of Science
publication
Neutral sphingomyelinase 2 inhibitors based on the pyrazolo[1,5-a]pyrimidin-3-amine scaffold
2023 |
Faculty of Science
publication
Deficit of Lysosomal Sphingomyelinase Phenotype: Spectrum of the Czech and Slovak Patients
2001 |
Faculty of Physical Education and Sport
publication
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
2019 |
First Faculty of Medicine
publication
Lysosomal sphingomyelinase deficiency: Phenotype spectrum of the Czech and Slovak patients
2001 |
First Faculty of Medicine
publication
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency.
1999 |
Faculty of Physical Education and Sport
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
Acid sphingomyelinase deficiency: molecular studies of a series of 25 Czech and Slovak patients with prevalence of intermediatr phenotype
Publication without faculty affiliation
publication
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.
1997 |
Faculty of Physical Education and Sport
publication
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
2003 |
First Faculty of Medicine
publication
The neuronopathic variant of the deficit of the acid sphingomyelinase in the magnetic resonance image
Publication without faculty affiliation
publication
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
2003 |
Faculty of Physical Education and Sport
publication
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate
2005 |
First Faculty of Medicine
publication
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate
2005 |
Faculty of Physical Education and Sport
publication
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
2007 |
Second 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
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency
2018 |
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
publication
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Effects of sphingomyelin/ceramide ratio on the permeability and microstructure of model stratum corneum lipid membranes
2014 |
Faculty of Pharmacy in Hradec Králové