Szymanska-Rozek P - Search Results

1

Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers.

Szymańska-Rożek P, Lipiński P, Kleinotiene G, Dubiela P, Tylki-Szymańska A. Szymańska-Rożek P, et al. Int J Mol Sci. 2024 Nov 8;25(22):12021. doi: 10.3390/ijms252212021. Int J Mol Sci. 2024. PMID: 39596090 Free PMC article.

2

Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.

Dubiela P, Szymanska-Rozek P, Hasinski P, Lipinski P, Kleinotiene G, Giersz D, Tylki-Szymanska A. Dubiela P, et al. Among authors: szymanska rozek p. Biomolecules. 2024 Jul 12;14(7):842. doi: 10.3390/biom14070842. Biomolecules. 2024. PMID: 39062556 Free PMC article.

3

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.

Dubiela P, Szymańska-Rożek P, Eljaszewicz A, Lipiński P, Hasiński P, Giersz D, Walewska A, Tynecka M, Moniuszko M, Tylki-Szymańska A. Dubiela P, et al. Among authors: szymanska rozek p. Biomolecules. 2023 Apr 3;13(4):644. doi: 10.3390/biom13040644. Biomolecules. 2023. PMID: 37189391 Free PMC article.

4

A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients-A Qualitative and Quantitative Approach.

Szymańska-Rożek P, Czartoryska B, Kleinotiene G, Lipiński P, Tylki-Szymańska A, Ługowska A. Szymańska-Rożek P, et al. Biomolecules. 2023 Feb 24;13(3):436. doi: 10.3390/biom13030436. Biomolecules. 2023. PMID: 36979371 Free PMC article.

5

Pediatric Liver Disease Patients and Secondary Glycosylation Abnormalities.

Bogdańska A, Lipiński P, Szymańska-Rożek P, Jankowska I, Socha P, Tylki-Szymańska A. Bogdańska A, et al. Among authors: szymanska rozek p. Front Pediatr. 2021 Jan 13;8:613224. doi: 10.3389/fped.2020.613224. eCollection 2020. Front Pediatr. 2021. PMID: 33520896 Free PMC article.

6

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Bogdańska A, Lipiński P, Szymańska-Rożek P, Jezela-Stanek A, Rokicki D, Socha P, Tylki-Szymańska A. Bogdańska A, et al. Among authors: szymanska rozek p. Orphanet J Rare Dis. 2021 Jan 6;16(1):17. doi: 10.1186/s13023-020-01657-5. Orphanet J Rare Dis. 2021. PMID: 33407696 Free PMC article.

7

Controlled attenuation parameter and liver stiffness measurements using transient elastography by FibroScan in Gaucher disease.

Lipiński P, Szymańska-Rożek P, Socha P, Tylki-Szymańska A. Lipiński P, et al. Among authors: szymanska rozek p. Mol Genet Metab. 2020 Feb;129(2):125-131. doi: 10.1016/j.ymgme.2019.10.013. Epub 2019 Nov 1. Mol Genet Metab. 2020. PMID: 31704237

8

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease.

Wicher D, Jankowska I, Lipiński P, Szymańska-Rożek P, Kmiotek J, Jańczyk W, Rubik J, Chrzanowska K, Socha P. Wicher D, et al. Among authors: szymanska rozek p. Front Pediatr. 2019 Jan 11;6:422. doi: 10.3389/fped.2018.00422. eCollection 2018. Front Pediatr. 2019. PMID: 30687687 Free PMC article.

9

Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight.

Tylki-Szymańska A, Szymańska-Rożek P, Hasiński P, Ługowska A. Tylki-Szymańska A, et al. Among authors: szymanska rozek p. Mol Genet Metab. 2018 Apr;123(4):495-500. doi: 10.1016/j.ymgme.2018.02.004. Epub 2018 Feb 27. Mol Genet Metab. 2018. PMID: 29530534

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