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  1. Article

    Open Access

    Subclinical 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...

    L. Dvorakova, J. Sikora, M. Hrebicek, H. Hulkova in Journal of Inherited Metabolic Disease (2006)

  2. No Access

    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...

    H. Pavlů-Pereira, B. Asfaw, H. Poupčtová in Journal of Inherited Metabolic Disease (2005)

  3. No Access

    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...

    J. Sikora, G. Dworacki, J. Zeromski in Lung (1996)