Publikace
- Diagnoza Niemann-Pick typu C (NPC) - Rozhodnutí na úrovni buňky. Zpráva pathologa.2010 | 1. lékařská fakulta
- Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients2003 | 1. lékařská fakulta
- Sleep disturbances and hypocretin deficiency in Niemann-Pick disease Type C2003 | 1. lékařská fakulta
- Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics2014 | 1. lékařská fakulta, 2. lékařská fakulta
- Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma2014 | 1. lékařská fakulta
- Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis2013 | 1. lékařská fakulta, 3. lékařská fakulta
- Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens2012 | 1. lékařská fakulta
- Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease2012 | 1. lékařská fakulta
- Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male2012 | 1. lékařská fakulta
- 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 deficiency2012 | 1. lékařská fakulta
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