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dysostosis multiplex
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Characteristic clinical features and laboratory findings of inborn errors of metabolism
2018 |
First Faculty of Medicine
publication
Mukopolysacharidóza I v revmatologické ambulanci
2016 |
First Faculty of Medicine
publication
Enzyme replacement therapy in patients with mucopolysaccharidoses
2016 |
First Faculty of Medicine
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Mucopolysaccharidosis I - clinical manifestations in 24 children from the Czech Republic and Slovakia
2011 |
Second Faculty of Medicine
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GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
2009 |
First Faculty of Medicine