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Miroslav Janošík
Miroslav Janošík
Charles University in Prague
Biology
Homocystinuria
Cystathionine beta synthase
Mutation
Mutant
3
Papers
71
Citations
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Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
2015
Journal of Inherited Metabolic Disease
Petra Melenovská
Jana Kopecka
Jakub Krijt
Aleš Hnízda
Kateřina Raková
Miroslav Janošík
Bridget Wilcken
Viktor Kožich
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Citations (21)
Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.
2009
The Journal of Pediatrics
Miroslav Janošík
J. Sokolová
Bohumila Janošíková
Jakub Krijt
Veronika Klatovská
Viktor Kožich
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Citations (35)
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199
1997
Journal of Inherited Metabolic Disease
Viktor Kožich
Miroslav Janošík
J. Sokolová
J. Oliveriusová
Orendác M
Jan P. Kraus
Daniel Elleder
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Citations (15)
1