Ługowska A - Search Results

1

Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.

Lipiński P, Ługowska A, Tylki-Szymańska A. Lipiński P, et al. Among authors: lugowska a. Adv Clin Exp Med. 2024 Oct;33(10):1163-1168. doi: 10.17219/acem/193696. Adv Clin Exp Med. 2024. PMID: 39441731 Free article.

2

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.

Lipiński P, Kuchar L, Zakharova EY, Baydakova GV, Ługowska A, Tylki-Szymańska A. Lipiński P, et al. Among authors: lugowska a. Orphanet J Rare Dis. 2019 Feb 22;14(1):55. doi: 10.1186/s13023-019-1029-1. Orphanet J Rare Dis. 2019. PMID: 30795770 Free PMC article.

3

Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.

Szymańska E, Średzińska M, Ługowska A, Pajdowska M, Rokicki D, Tylki-Szymańska A. Szymańska E, et al. Among authors: lugowska a. Mol Genet Metab Rep. 2015 Oct 6;5:33-35. doi: 10.1016/j.ymgmr.2015.09.004. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649539 Free PMC article.

4

Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.

Lipiński P, Ługowska A, Zakharova EY, Socha P, Tylki-Szymańska A. Lipiński P, et al. Among authors: lugowska a. J Pediatr Gastroenterol Nutr. 2018 Oct;67(4):452-457. doi: 10.1097/MPG.0000000000002084. J Pediatr Gastroenterol Nutr. 2018. PMID: 29958253

5

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.

Lipiński P, Szczałuba K, Buda P, Zakharova EY, Baydakova G, Ługowska A, Różdzyńska-Świątkowska A, Cyske Z, Węgrzyn G, Pollak A, Płoski R, Tylki-Szymańska A. Lipiński P, et al. Among authors: lugowska a. Int J Mol Sci. 2022 Sep 28;23(19):11424. doi: 10.3390/ijms231911424. Int J Mol Sci. 2022. PMID: 36232726 Free PMC article.

6

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. Among authors: lugowska a. Biomolecules. 2023 Feb 24;13(3):436. doi: 10.3390/biom13030436. Biomolecules. 2023. PMID: 36979371 Free PMC article.

7

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate.

Lipiński P, Różdżyńska-Świątkowska A, Ługowska A, Marucha J, Drabko K, Tylki-Szymańska A. Lipiński P, et al. Among authors: lugowska a. Diagnostics (Basel). 2024 Sep 4;14(17):1956. doi: 10.3390/diagnostics14171956. Diagnostics (Basel). 2024. PMID: 39272740 Free PMC article.

8

Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland.

Tylki-Szymanska A, Lugowska A, Czartoryska B. Tylki-Szymanska A, et al. Among authors: lugowska a. Acta Paediatr Jpn. 1996 Oct;38(5):529-32. doi: 10.1111/j.1442-200x.1996.tb03539.x. Acta Paediatr Jpn. 1996. PMID: 8942016

9

Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease.

Tylki-Szymańska A, Rujner J, Lugowska A, Sawnor-Korszyńska D, Woźniewicz B, Czarnowska E. Tylki-Szymańska A, et al. Among authors: lugowska a. Acta Paediatr Jpn. 1997 Dec;39(6):643-6. doi: 10.1111/j.1442-200x.1997.tb03660.x. Acta Paediatr Jpn. 1997. PMID: 9447750

10

Molecular bases of metachromatic leukodystrophy in Polish patients.

Lugowska A, Płoski R, Włodarski P, Tylki-Szymańska A. Lugowska A, et al. J Hum Genet. 2010 Jun;55(6):394-6. doi: 10.1038/jhg.2010.25. Epub 2010 Mar 26. J Hum Genet. 2010. PMID: 20339381

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