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Anna Kulpanovich
Anna Kulpanovich
Genetics
Biology
Maroteaux–Lamy syndrome
Mucopolysaccharidosis type VI
Genotype
4
Papers
36
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Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe
2019
Journal of Applied Genetics
Aleksandra Jezela Stanek
Agnieszka Różdżyńska-Świątkowska
Anna Kulpanovich
Elżbieta Ciara
Jolanta Marucha
Anna Tylki-Szymańska
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Citations (5)
Molecular analysis of 22 patients with mucopolysaccharidosis IVA from Poland, Belarus and Kazakhstan identifies 6 novel GALNS mutations
2016
Molecular Genetics and Metabolism
Anna Tylki-Szymańska
Agnieszka Różdżyńska-Świątkowska
Jolanta Marucha
Anna Kulpanovich
Assel Tulebayeva
Agnieszka Jurecka
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Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
2014
Pediatrics International
Agnieszka Jurecka
Ekaterina Zakharova
Loreta Cimbalistiene
Nina Gusina
Věra Malinová
Agnieszka Różdżyńska-Świątkowska
Adam Golda
Anna Kulpanovich
Gulnara Kaldenovna Abdilova
Elena Voskoboeva
Anna Tylki-Szymańska
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Citations (18)
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
2013
American Journal of Medical Genetics Part A
Agnieszka Jurecka
Ekaterina Zakharova
Loreta Cimbalistiene
Nina Gusina
Anna Kulpanovich
Adam Golda
Violetta Opoka-Winiarska
Ewa Piotrowska
Elena Voskoboeva
Anna Tylki-Szymańska
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Citations (13)
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