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Vladimir Bzduch
Vladimir Bzduch
Comenius University in Bratislava
Congenital disorder of glycosylation
Mutation
Hereditary gingival fibromatosis
Enzyme replacement therapy
Ultrastructure
3
Papers
7
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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
2021
American Journal of Medical Genetics Part A
Jana Ziburová
Marek Nemčovič
Sergej Šesták
Jana Bellová
Zuzana Pakanová
Barbara Siváková
A. Salingova
Claudia Šebová
Mária Ostrožlíková
Dimitra-Evanthia Lekka
Jana Brucknerova
Ingrid Brucknerová
Martina Skoknová
Alexandra Mc Cullough
Gabriela Hrčková
Anna Hlavatá
Vladimir Bzduch
Ján Mucha
Peter Barath
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SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.
2020
Molecular genetics and metabolism reports
Thorsten Marquardt
Vladimir Bzduch
Max Hogrebe
S. Rust
Janine Reunert
Marianne Grüneberg
Julien Park
Nico Callewaert
Robin H. Lachmann
Yoshinao Wada
Thomas Engel
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The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis.
2016
Neuro endocrinology letters
Michal Straka
Ľuboš Danišovič
Vladimir Bzduch
Štefan Polák
Ivan Varga
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Citations (2)
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