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Onemocnění
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Person
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Helena Poupětová
External person at First Faculty of Medicine
108 publications
Publications
publication
Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia
2011 |
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
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients
2009 |
First Faculty of Medicine
publication
Enzyme replacement therapy for Gaucher disease in twin pregnancy
2009 |
First Faculty of Medicine
publication
Lower extrermitics pain as a first sign of metabolic disorders
2006 |
First Faculty of Medicine
publication
Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures
2023 |
First Faculty of Medicine
publication
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients
2023 |
First Faculty of Medicine
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Pitfalls of X-chromosome inactivation testing in females with Fabry disease
2022 |
First Faculty of Medicine
publication
Detailed phenotype of GLA variants identified by the nationwide neurological screening of stroke patients in the Czech Republic
2021 |
First Faculty of Medicine, Second Faculty of Medicine
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