Tylki-Szymańska A - Search Results

1

Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.

Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Kulpanovich A, Golda A, Opoka-Winiarska V, Piotrowska E, Voskoboeva E, Tylki-Szymańska A. Jurecka A, et al. Am J Med Genet A. 2013 Jun;161A(6):1291-9. doi: 10.1002/ajmg.a.35905. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633437

2

Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study.

Wegrzyn G, Kurlenda J, Liberek A, Tylki-Szymanska A, Czartoryska B, Piotrowska E, Jakóbkiewicz-Banecka J, Wegrzyn A. Wegrzyn G, et al. BMC Pediatr. 2005 May 9;5(1):9. doi: 10.1186/1471-2431-5-9. BMC Pediatr. 2005. PMID: 15882450 Free PMC article.

3

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses.

Piotrowska E, Jakóbkiewicz-Banecka J, Barańska S, Tylki-Szymańska A, Czartoryska B, Wegrzyn A, Wegrzyn G. Piotrowska E, et al. Eur J Hum Genet. 2006 Jul;14(7):846-52. doi: 10.1038/sj.ejhg.5201623. Epub 2006 May 3. Eur J Hum Genet. 2006. PMID: 16670689

4

Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses.

Malinowska M, Jakóbkiewicz-Banecka J, Kloska A, Tylki-Szymańska A, Czartoryska B, Piotrowska E, Wegrzyn A, Wegrzyn G. Malinowska M, et al. Eur J Pediatr. 2008 Feb;167(2):203-9. doi: 10.1007/s00431-007-0462-7. Epub 2007 Mar 15. Eur J Pediatr. 2008. PMID: 17361416

5

Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy.

Wegrzyn G, Tylki-Szymańska A, Liberek A, Piotrowska E, Jakóbkiewicz-Banecka J, Marucha J, Czartoryska B, Wegrzyn A. Wegrzyn G, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1925-7. doi: 10.1002/ajmg.a.31831. Am J Med Genet A. 2007. PMID: 17603800 No abstract available.

6

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E. Jurecka A, et al. Mol Genet Metab. 2008 Aug;94(4):435-442. doi: 10.1016/j.ymgme.2008.04.013. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524658

7

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.

Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S. Jurecka A, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S329-32. doi: 10.1007/s10545-008-0904-z. Epub 2008 Jul 12. J Inherit Metab Dis. 2008. PMID: 18649008

8

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.

Jurecka A, Popowska E, Tylki-Szymanska A, Kubalska J, Ciara E, Krumina Z, Sykut-Cegielska J, Pronicka E. Jurecka A, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S447-51. doi: 10.1007/s10545-008-1013-8. Epub 2008 Nov 21. J Inherit Metab Dis. 2008. PMID: 19016344

9

Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis.

Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Czartoryska B, Wegrzyn A, Wegrzyn G. Piotrowska E, et al. Acta Paediatr. 2009 Apr;98(4):743-9. doi: 10.1111/j.1651-2227.2008.01153.x. Epub 2008 Nov 30. Acta Paediatr. 2009. PMID: 19046346

10

Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase).

Tylki-Szymanska A, Rozdzynska A, Jurecka A, Marucha J, Czartoryska B. Tylki-Szymanska A, et al. Mol Genet Metab. 2010 Jan;99(1):10-7. doi: 10.1016/j.ymgme.2009.08.008. Mol Genet Metab. 2010. PMID: 19783188 Clinical Trial.

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