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Joanna Pawlowska

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Articles 106
Citations 802
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Recent Articles
11.
Neroldova M, Ciara E, Slatinska J, Frankova S, Liskova P, Kotalova R, et al.
PLoS One . 2023 Jul; 18(7):e0288907. PMID: 37471416
Background And Aim: Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this...
12.
Lipinski P, Ciara E, Jurkiewicz D, Mekrouda M, Cielecka-Kuszyk J, Jurkiewicz E, et al.
Diagnostics (Basel) . 2023 Jun; 13(11). PMID: 37296768
Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the gene. The aim of our study was to present the clinical,...
13.
Janowska M, Bierla J, Kaleta M, Wierzbicka-Rucinska A, Czubkowski P, Kanarek E, et al.
J Clin Med . 2022 Dec; 11(24). PMID: 36555887
The pathogenesis of biliary atresia (BA) is still not clear. The aim of this study was to evaluate the expression of selected immunological parameters in liver tissue in BA children...
14.
Nguyen N, Pawlowska J, Angeles I, Zajaczkowski M, Pawlowski J
Geobiology . 2022 Oct; 21(1):133-150. PMID: 36259453
Arctic marine biodiversity is undergoing rapid changes due to global warming and modifications of oceanic water masses circulation. These changes have been demonstrated in the case of mega- and macrofauna,...
15.
Baumann U, Karam V, Adam R, Fondevila C, Dhawan A, Sokal E, et al.
Pediatrics . 2022 Sep; 150(4). PMID: 36111446
Objectives: The European Liver Transplant Registry has been collecting data on virtually all pediatric liver transplant (PLT) procedures in Europe since 1968. We analyzed patient outcome over time and identified...
16.
Ryzko J, Walczak-Sztulpa J, Czubkowski P, Latos-Bielenska A, Kowalski A, Stefanowicz M, et al.
Front Pediatr . 2022 Mar; 10:834064. PMID: 35281231
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and liver insufficiency are also present in...
17.
Pawlowska J, Sosnowka-Czajka E, Skomorucha I
Animals (Basel) . 2022 Feb; 12(4). PMID: 35203240
The effects of the in ovo injection site of electrolytes on selected biochemical blood parameters and the quality of layer chicks were investigated. A total of 120 fertile eggs from...
18.
Stefanowicz M, Janowska M, Pawlowska J, Tylki-Szymanska A, Kowalski A, Szymczak M, et al.
Children (Basel) . 2021 Sep; 8(9). PMID: 34572178
Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal-recessive error of the pentose phosphate pathway. It is an early-onset multisystem disease with dysmorphic features, anaemia, coagulopathy, thrombocytopenia, tubulopathy, hepatosplenomegaly...
19.
Jankowska I, Pawlowska J, Szymczak M, Ismail H, Broniszczak D, Cielecka-Kuszyk J, et al.
Am J Case Rep . 2021 Jul; 22:e932374. PMID: 34283821
BACKGROUND Current treatment options for progressive intrahepatic familial cholestasis type 1 (PFIC-1) comprise ursodeoxycholic acid (UDCA), partial external biliary diversion (PEBD), and liver transplantation (LTx). The role and timing of...
20.
Szymanska N, Lacka M, Koziorowska-Makuch K, Kulinski K, Pawlowska J, Kujawa A, et al.
Geobiology . 2021 Jun; 19(6):631-641. PMID: 34143930
Norwegian fjords have been recently recognized as hot spots for carbon burial due to the large amounts of terrestrial organic matter delivered to fjord sediments, as well as the high...