Marucha J - Search Results

1

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. Among authors: marucha j. 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.

2

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: marucha j. 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.

3

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: marucha j. 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.

4

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. Among authors: marucha j. 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

5

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

6

Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status.

Marucha J, Jurecka A, Syczewska M, Różdżyńska-Świątkowska A, Tylki-Szymańska A. Marucha J, et al. Acta Paediatr. 2012 Apr;101(4):e183-8. doi: 10.1111/j.1651-2227.2011.02522.x. Epub 2011 Dec 1. Acta Paediatr. 2012. PMID: 22077147

7

Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up.

Jurecka A, Marucha J, Jurkiewicz E, Różdżyńska-Świątkowska A, Tylki-Szymańska A. Jurecka A, et al. Among authors: marucha j. Pediatr Neurol. 2012 Dec;47(6):461-5. doi: 10.1016/j.pediatrneurol.2012.08.010. Pediatr Neurol. 2012. PMID: 23127271

8

Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy.

Jurecka A, Opoka-Winiarska V, Jurkiewicz E, Marucha J, Tylki-Szymańska A. Jurecka A, et al. Among authors: marucha j. Pediatr Neurosurg. 2012;48(3):191-8. doi: 10.1159/000345635. Epub 2012 Dec 21. Pediatr Neurosurg. 2012. PMID: 23258111 Review.

9

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.

Jezela-Stanek A, Różdżyńska-Świątkowska A, Kulpanovich A, Ciara E, Marucha J, Tylki-Szymańska A. Jezela-Stanek A, et al. Among authors: marucha j. J Appl Genet. 2019 May;60(2):163-174. doi: 10.1007/s13353-019-00491-1. Epub 2019 Mar 30. J Appl Genet. 2019. PMID: 30927141 Free PMC article.

10

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature.

Różdżyńska-Świątkowska A, Szklanny K, Marucha J, Tylki-Szymańska A. Różdżyńska-Świątkowska A, et al. Among authors: marucha j. Diagnostics (Basel). 2020 Feb 20;10(2):116. doi: 10.3390/diagnostics10020116. Diagnostics (Basel). 2020. PMID: 32093402 Free PMC article.

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