-
Article
Open AccessSubclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?
We present the third case of Niemann–Pick disease type C without neurological symptoms. The patient was a 53-year-old woman without significant prior health problems who died of acute pulmonary embolism. Autop...
-
Article
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
A multi-approach study in a series of 25 Czech and Slovak patients with acid sphingomyelinase deficiency revealed a broad phenotypic variability within Niemann–Pick disease types A and B. The clinical manifest...
-
Article
DNA ploidy, S-phase, and Ki-67 antigen expression in the evaluation of cell content of pleural effusions
Cells from pleural effusions (28 malignant and 14 nonmalignant with reactive mesothelial cells) were examined in parallel by means of conventional cytology and multiparametric flow cytometry. The latter includ...