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late onset form
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publication
The late-onset form of Pompe disease
2021 |
First Faculty of Medicine
publication
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease
2019 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Novel mutation in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiency
+1
Publication without faculty affiliation
publication
Late onset of inherited urea cycle disorder - ornithine transcarbamoylase deficiency
2016 |
First Faculty of Medicine
publication
Inherited metabolic disorders in the general practitioner's surgery - how to diagnose?
2017 |
Publication without faculty affiliation
publication
Transgenic Rat Model of Huntington's Disease: A Histopathological Study and Correlations with Neurodegenerative Process in the Brain of HD Patients
2014 |
Faculty of Pharmacy in Hradec Králové, Faculty of Medicine in Hradec Králové
publication
Pampe disease as seen by a pediatric cardiologist
2012 |
Second Faculty of Medicine