Lipiński P - Search Results

1

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment.

Lipiński P, Tylki-Szymańska A. Lipiński P, et al. Diagnostics (Basel). 2024 Jun 19;14(12):1299. doi: 10.3390/diagnostics14121299. Diagnostics (Basel). 2024. PMID: 38928715 Free PMC article. Review.

2

Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.

Lipiński P, Jankowska I, Ługowska A, Musielak M, Pronicki M, Tylki-Szymańska A. Lipiński P, et al. Pediatr Neonatol. 2018 Jun;59(3):317-318. doi: 10.1016/j.pedneo.2017.09.003. Epub 2017 Oct 12. Pediatr Neonatol. 2018. PMID: 29100954 Free article. No abstract available.

3

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

Lipiński P, Pawłowska J, Stradomska T, Ciara E, Jankowska I, Socha P, Tylki-Szymańska A. Lipiński P, et al. JIMD Rep. 2018;42:79-87. doi: 10.1007/8904_2017_83. Epub 2018 Jan 3. JIMD Rep. 2018. PMID: 29292491 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. J Pediatr Gastroenterol Nutr. 2018 Oct;67(4):452-457. doi: 10.1097/MPG.0000000000002084. J Pediatr Gastroenterol Nutr. 2018. PMID: 29958253

5

[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].

Lipiński P, Stradomska T, Tylki-Szymańska A. Lipiński P, et al. Dev Period Med. 2018;22(2):187-196. doi: 10.34763/devperiodmed.20182202.187196. Dev Period Med. 2018. PMID: 30056406 Free PMC article. Review. Polish.

6

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. 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.

7

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

Lipiński P, Stawiński P, Rydzanicz M, Wypchło M, Płoski R, Stradomska TJ, Jurkiewicz E, Ferdinandusse S, Wanders RJA, Vaz FM, Tylki-Szymańska A. Lipiński P, et al. J Appl Genet. 2020 Feb;61(1):87-91. doi: 10.1007/s13353-019-00523-w. Epub 2019 Oct 18. J Appl Genet. 2020. PMID: 31628608 Free PMC article.

8

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. 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

9

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.

Lipiński P, Bogdańska A, Różdżyńska-Świątkowska A, Wierzbicka-Rucińska A, Tylki-Szymańska A. Lipiński P, et al. JIMD Rep. 2020 Jan 30;51(1):82-88. doi: 10.1002/jmd2.12086. eCollection 2020 Jan. JIMD Rep. 2020. PMID: 32071843 Free PMC article.

10

Progressive macrophage accumulation in lysosomal acid lipase deficiency.

Lipiński P, Cielecka-Kuszyk J, Bożkiewicz-Kasperczyk A, Perkowska B, Jurkiewicz E, Tylki-Szymańska A. Lipiński P, et al. Mol Genet Metab Rep. 2020 May 1;23:100594. doi: 10.1016/j.ymgmr.2020.100594. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32382506 Free PMC article.

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