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Newborn screening
Person
Class
Person
Publication
Programmes
prof. MUDr. Milan Elleder DrSc.
Academic staff at First Faculty of Medicine
3 classes
211 publications
Classes
class
Pathology of the cell
B01194 |
First Faculty of Medicine
class
Cell biology
+1
B01306 |
First Faculty of Medicine
Publications
publication
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
2014 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma
2014 |
First Faculty of Medicine
publication
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis
2013 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens
2012 |
First Faculty of Medicine
publication
Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease
2012 |
First Faculty of Medicine
publication
Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male
2012 |
First Faculty of Medicine
publication
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 deficiency
2012 |
First Faculty of Medicine
publication
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
2012 |
First Faculty of Medicine
publication
CLN5
2011 |
First Faculty of Medicine
publication
CLN6
2011 |
First Faculty of Medicine
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