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storage lysosome
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publication
Subcellular, Cellular and Organ Pathology of Fabry Disease
2010 |
First Faculty of Medicine
publication
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
2008 |
First Faculty of Medicine
publication
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 accumulation
2001 |
First Faculty of Medicine
publication
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation
2007 |
First Faculty of Medicine
publication
Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation
2007 |
Second Faculty of Medicine