M Elleder


Affiliation: Charles University
Country: Czech Republic


  1. Elleder M, Houstkova H, Zeman J, Ledvinova J, Poupetova H. Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case. Virchows Arch. 2001;439:206-11 pubmed
    ..Emphysema should thus be considered as a variant of the pulmonary NPC2 storage process, governed most probably by an epigenetic mechanism responsible for storage macrophage migration into the bronchiolar compartment. ..
  2. Dvorakova L, Sikora J, Hrebicek M, Hulkova H, Bouckova M, Stolnaja L, et al. Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?. J Inherit Metab Dis. 2006;29:591 pubmed
    ..Although only three patients have been reported, this (most probably underdiagnosed) form of NPC should be considered in differential diagnosis of isolated hepatosplenomegaly with foam cells in adulthood...