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IDUA
Person
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Person
Publication
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Helena Poupětová
External person at First Faculty of Medicine
108 publications
Publications
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
Mucopolysacharidosis type I: mutation analysis and polymorphisms in the IDUA gene in Czech and Slovak population
Publication without faculty affiliation
publication
Mucopolysaccharidosis type I: Molecular studies of IDUA gene in Czech and Slovak populations
Publication without faculty affiliation
publication
Mutation analysis of the IDUA gene in Czech and Slovak patients with mucopolysaccharidosis type I
Publication without faculty affiliation
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
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