Tylki-Szymańska A - Search Results

1

European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. Wanner C, et al. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Mol Genet Metab. 2018. PMID: 30017653 Review.

2

Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.

Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. Wraith JE, et al. J Pediatr. 2008 Apr;152(4):563-70, 570.e1. doi: 10.1016/j.jpeds.2007.09.007. Epub 2007 Dec 3. J Pediatr. 2008. PMID: 18346516 Clinical Trial.

3

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Hopkin RJ, et al. Pediatr Res. 2008 Nov;64(5):550-5. doi: 10.1203/PDR.0b013e318183f132. Pediatr Res. 2008. PMID: 18596579

4

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.

5

Enzyme replacement therapy for Fabry disease: a systematic review of available evidence.

Schaefer RM, Tylki-Szymańska A, Hilz MJ. Schaefer RM, et al. Drugs. 2009 Nov 12;69(16):2179-205. doi: 10.2165/11318300-000000000-00000. Drugs. 2009. PMID: 19852524 Review.

6

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.

Tylki-Szymańska A, Groener JE, Kamiński ML, Ługowska A, Jurkiewicz E, Czartoryska B. Tylki-Szymańska A, et al. Mol Genet Metab. 2011 Dec;104(4):627-30. doi: 10.1016/j.ymgme.2011.09.010. Epub 2011 Sep 16. Mol Genet Metab. 2011. PMID: 21978771

7

Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature.

Jurecka A, Żuberuber Z, Opoka-Winiarska V, Węgrzyn G, Tylki-Szymańska A. Jurecka A, et al. Mol Genet Metab. 2012 Nov;107(3):508-12. doi: 10.1016/j.ymgme.2012.08.013. Epub 2012 Aug 17. Mol Genet Metab. 2012. PMID: 22926198 Review.

8

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.

Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A. Linthorst GE, et al. JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14. JIMD Rep. 2013. PMID: 23430520 Free PMC article.

9

Gastroenterological complications of Anderson-Fabry disease.

Buda P, Książyk J, Tylki-Szymanska A. Buda P, et al. Curr Pharm Des. 2013;19(33):6009-13. doi: 10.2174/13816128113199990347. Curr Pharm Des. 2013. PMID: 23448457 Review.

10

Effect of rapid cessation of enzyme replacement therapy: a report of 5 more cases.

Jurecka A, Malinova V, Tylki-Szymańska A. Jurecka A, et al. Mol Genet Metab. 2014 Feb;111(2):212-3. doi: 10.1016/j.ymgme.2013.08.019. Epub 2013 Sep 6. Mol Genet Metab. 2014. PMID: 24060239 No abstract available.

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