Jurecka 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

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

3

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

4

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

5

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. Among authors: jurecka a. 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.

6

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

Jurecka A, Stiburkova B, Krijt J, Gradowska W, Tylki-Szymanska A. Jurecka A, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S21-4. doi: 10.1007/s10545-009-9011-z. Epub 2010 Jan 14. J Inherit Metab Dis. 2010. PMID: 20077140

7

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. Among authors: jurecka a. 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.

8

Aminoacylase 1 deficiency associated with autistic behavior.

Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A. Tylki-Szymanska A, et al. Among authors: jurecka a. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S211-4. doi: 10.1007/s10545-010-9089-3. Epub 2010 May 18. J Inherit Metab Dis. 2010. PMID: 20480396

9

Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II.

Rozdzynska A, Tylki-Szymanska A, Jurecka A, Cieslik J. Rozdzynska A, et al. Among authors: jurecka a. Acta Paediatr. 2011 Mar;100(3):456-60. doi: 10.1111/j.1651-2227.2010.02060.x. Epub 2010 Nov 5. Acta Paediatr. 2011. PMID: 20950410

10

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.

Jurecka A, Jurkiewicz E, Tylki-Szymanska A. Jurecka A, et al. Eur J Pediatr. 2012 Jan;171(1):131-8. doi: 10.1007/s00431-011-1503-9. Epub 2011 May 31. Eur J Pediatr. 2012. PMID: 21625931 Review.

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