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Paulina Halat-Wolska

Explore the profile of Paulina Halat-Wolska including associated specialties, affiliations and a list of published articles. Areas
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Citations 13
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Recent Articles
1.
Piekutowska-Abramczuk D, Jedrzejowska M, Ciara E, Jurkiewicz D, Halat-Wolska P, Mlynek M, et al.
Neurol Neurochir Pol . 2025 Feb; PMID: 40008859
No abstract available.
2.
Halat-Wolska P, Ciara E, Pac M, Obrycki L, Wicher D, Iwanicka-Pronicka K, et al.
Genes (Basel) . 2025 Feb; 16(2). PMID: 40004525
Alport syndrome (AS) is a clinically and genetically heterogeneous glomerulopathy resulting from pathogenic variants in and . Genetic diagnosis is increasingly being conducted using next-generation sequencing (NGS). Within eight years,...
3.
Wesol-Kucharska D, Greczan M, Kaczor M, Ehmke Vel Emczynska-Seliga E, Hajdacka M, Czekuc-Kryskiewicz E, et al.
Nutrients . 2024 Mar; 16(6). PMID: 38542723
Mitochondrial diseases (MDs) are a heterogeneous group of disorders resulting from abnormal mitochondrial function. Currently, there is no causal treatment for MDs. The aim of the study was to assess...
4.
Wesol-Kucharska D, Rokicki D, Greczan M, Kaczor M, Czekuc-Kryskiewicz E, Piekutowska-Abramczuk D, et al.
Pediatr Endocrinol Diabetes Metab . 2022 May; 28(2):141-151. PMID: 35620925
Abstract: The fibroblast growth factor 21 (FGF21) is a new biomarker of mitochondrial diseases (MD). FGF21 concentration may be used to define the severity of mitochondrial disease. Aim Of The...
5.
Wesol-Kucharska D, Greczan M, Kaczor M, Pajdowska M, Piekutowska-Abramczuk D, Ciara E, et al.
Mol Genet Metab Rep . 2021 Oct; 29:100801. PMID: 34631424
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. confusion, dysphagia, dysarthria,...
6.
Wicher D, Grenda R, Teisseyre M, Szymczak M, Halat-Wolska P, Jurkiewicz D, et al.
Front Pediatr . 2020 Dec; 8:591379. PMID: 33282801
Liver involvement in autosomal recessive polycystic kidney disease (ARPKD) leads to the development of portal hypertension and its complications. The aim of this study was to analyze the occurrence of...
7.
Janiec A, Halat-Wolska P, Obrycki L, Ciara E, Wojcik M, Pludowski P, et al.
Nephrol Dial Transplant . 2020 Oct; 36(8):1484-1492. PMID: 33099630
Background: Infantile hypercalcaemia (IH) is a vitamin D3 metabolism disorder. The molecular basis for IH is biallelic mutations in the CYP24A1 or SLC34A1 gene. These changes lead to catabolism disorders...