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Person
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Helena Poupětová
External person at First Faculty of Medicine
108 publications
Publications
publication
The coincidence of IgA nephropathy and Fabry disease
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports
2013 |
First Faculty of Medicine
publication
Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia
2011 |
First Faculty of Medicine
publication
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
2010 |
First Faculty of Medicine
publication
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
2010 |
First Faculty of Medicine
publication
Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans
2010 |
First Faculty of Medicine
publication
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients
2009 |
First Faculty of Medicine
publication
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
2009 |
First Faculty of Medicine
publication
Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein
2009 |
First Faculty of Medicine
publication
Enzyme replacement therapy for Gaucher disease in twin pregnancy
2009 |
First Faculty of Medicine
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