B
Barbara Czartoryska
Researcher at Curie Institute
Publications - 62
Citations - 1503
Barbara Czartoryska is an academic researcher from Curie Institute. The author has contributed to research in topics: Enzyme replacement therapy & Metachromatic leukodystrophy. The author has an hindex of 22, co-authored 61 publications receiving 1381 citations.
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Patent
Isoflavones for treating mucopolysaccharidoses
Grzegorz Grynkiewicz,Grzegorz Węgrzyn,Barbara Szechner,Wiesław Szeja,Anna Tylki-Szymańska,Alicja Węgrzyn,Joanna Jakóbkiewicz-Banecka,Sylwia Barańska,Barbara Czartoryska,Ewa Piotrowska +9 more
TL;DR: In this paper, the medical use of natural isoflavones and their semisynthetic derivatives or the pharmaceutically acceptable salts thereof for the therapeutic and/or prophylactic treatment of diseases, at the base of which lies an excessive production or storage of glycosaminoglycans, especially for treatment of mucopolysaccharidoses.
Journal ArticleDOI
Hyaluronidase in human somatic tissues and urine: polymorphism and the activity in diseases.
TL;DR: In patients with rheumatoid arthritis, hyaluronidase activity in the synovial fluid varied from not detectable to very high, and a partial deficiency was demonstrated in sera from some patients with dysostosis multiplex without mucopolysacchariduria.
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Neuraminidase deficiency presenting as a nephrosialidosis: The first case detected in Poland
TL;DR: A 4‐year‐old boy of related parents, born at term with hydrops fetalis, is reported, who had mild hepatosplenomegaly, joint restriction, gingival hypertrophy, lens opacities and cherry‐red spot.
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Natural history of Polish patients with mucopolysaccharidosis type VI
Agnieszka Jurecka,Agnieszka Różdżyńska,Jolanta Marucha,Barbara Czartoryska,Grzegorz Węgrzyn,Anna Tylki-Szymańska +5 more
TL;DR: The molecular analysis revealed that the milder phenotype may be associated with the R152W mutation, which suggests a specific genotype-phenotype correlation.
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Prevalence of Arylsulfatase A Pseudodeficiency Allele in Metachromatic Leukodystrophy Patients from Poland
Agnieszka Ługowska,Barbara Czartoryska,Anna Tylki-Szymańska,Mariola Bisko,Janusz G. Zimowski,Johannes Berger,Brunhilde Molzer +6 more
TL;DR: The question arises whether and how MLD mutations create a convenient milieu for PD mutations to occur (or inversely).