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ischaemic heart disease
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Helena Poupětová
External person at First Faculty of Medicine
108 publications
Publications
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
publication
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
2020 |
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 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Musculoskeletal involvement in patients with lysosomal storage disease
2019 |
First Faculty of Medicine
publication
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient
2018 |
First Faculty of Medicine
publication
Selektrivní screening Fabryho, Pompeho a Gaucherovy choroby ze suchých krevních kapek u dospělých a dospívajících
2018 |
First Faculty of Medicine
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