Tylki-Szymańska A - Search Results

1

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).

Muenzer J, Giugliani R, Scarpa M, Tylki-Szymańska A, Jego V, Beck M. Muenzer J, et al. Orphanet J Rare Dis. 2017 Oct 3;12(1):161. doi: 10.1186/s13023-017-0712-3. Orphanet J Rare Dis. 2017. PMID: 28974237 Free PMC article.

2

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A. Rathmann M, et al. Am J Hum Genet. 1996 Dec;59(6):1202-9. Am J Hum Genet. 1996. PMID: 8940265 Free PMC article.

3

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.

4

Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.

Tylki-Szymanska A, Marucha J, Jurecka A, Syczewska M, Czartoryska B. Tylki-Szymanska A, et al. J Inherit Metab Dis. 2010 Apr;33(2):151-7. doi: 10.1007/s10545-010-9059-9. Epub 2010 Mar 9. J Inherit Metab Dis. 2010. PMID: 20217237 Clinical Trial.

5

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

6

Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.

Muenzer J, Beck M, Giugliani R, Suzuki Y, Tylki-Szymanska A, Valayannopoulos V, Vellodi A, Wraith JE. Muenzer J, et al. Genet Med. 2011 Feb;13(2):102-9. doi: 10.1097/GIM.0b013e318206786f. Genet Med. 2011. PMID: 21233716 Free article.

7

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825

8

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up.

Tylki-Szymanska A, Jurecka A, Zuber Z, Rozdzynska A, Marucha J, Czartoryska B. Tylki-Szymanska A, et al. Acta Paediatr. 2012 Jan;101(1):e42-7. doi: 10.1111/j.1651-2227.2011.02385.x. Epub 2011 Jun 29. Acta Paediatr. 2012. PMID: 21672014

9

Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).

Marucha J, Tylki-Szymańska A, Jakóbkiewicz-Banecka J, Piotrowska E, Kloska A, Czartoryska B, Węgrzyn G. Marucha J, et al. Am J Med Genet A. 2011 Sep;155A(9):2257-62. doi: 10.1002/ajmg.a.34146. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834048

10

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council. Scarpa M, et al. Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. Orphanet J Rare Dis. 2011. PMID: 22059643 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

276 results

Search Page

Filters