Publikace
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | 1. lékařská fakulta, 3. lékařská fakulta, Přírodovědecká fakulta
- Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis2013 | 1. lékařská fakulta, 3. lékařská fakulta
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | 1. lékařská fakulta
- Diagnostika a možnosti léčby Niemann-Pickovy choroby typ C2012 | 1. lékařská fakulta, 3. lékařská fakulta
- Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male2012 | 1. lékařská fakulta
- Exprese a cílení membránového poteinu NCL7 do lysosomálního systému.2010 | 1. lékařská fakulta
- Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?2006 | 1. lékařská fakulta
- Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient2005 | 1. lékařská fakulta
- Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study2005 | 1. lékařská fakulta
- A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation2001 | 1. lékařská fakulta
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