Affiliation: Charles University
Country: Czech Republic
- Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patientsJ Sikora
Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine, Prague, Czech Republic
Ann Hum Genet 67:63-70. 2003..Geographical and/or social isolation of the affected families are likely contributing factors for the high number of homozygotes in our group...
- Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?L Dvorakova
Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic
J Inherit Metab Dis 29:591. 2006..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...
- Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiencyF Majer
Charles University in Prague, 1st Faculty of Medicine, Institute of Inherited Metabolic Disorders, Ke Karlovu 2, 128 08 Prague, Czech Republic
Gene 498:183-95. 2012..These observations suggest that the truncated protein is unstable and is co-translationally or early post-translationally degraded...
- Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndromeP Vylet'al
Center for Applied Genomics, Charles University 1st School of Medicine, Prague, Czech Republic
Kidney Int 70:1155-69. 2006..Uromodulin-associated kidney diseases' may be thus a more appropriate term for this syndrome...
- Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach studyH Pavlu-Pereira
Institute of Inherited Metabolic Disorders, Prague, Czech Republic
J Inherit Metab Dis 28:203-27. 2005..It appears more common in central Europe. The visceral, rapidly progressing early fatal type has been recognized rarely so far...
- A case of excessive autophagocytosis with multiorgan involvement and low clinical penetranceJ Sikora
Institute of Inherited Metabolic Disorders, 1st Medical Faculty, Charles University and General Teaching Hospital, Prague, Czech Republic
Cesk Patol 43:93-103. 2007..Whatever mechanism involved, the findings should be considered relevant in differential diagnostics, despite their low clinical penetrance, should be registered and thus rendered available for future definition...