- Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)Helena Hulkova
Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine and Teaching Hospital, Prague, Czech Republic
J Inherit Metab Dis 33:297-300. 2010..The results extend the thus far limited information on the adipocyte lysosomal system and its participation in lysosomal storage disorders. ..
- Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimensHelena Hulkova
Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine and The General Teaching Hospital, Prague, Czech Republic
Histopathology 60:1107-13. 2012..To identify reliable criteria with which to improve the diagnosis of lysosomal acid lipase (LAL) deficiency of the cholesterol ester storage disease (CESD) type in liver biopsies...