Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Patryk Lipiński"'
Autor:
Patryk Lipiński, Katarzyna Wójcicka-Kowalczyk, Anna Bogdańska, Ewa Ehmke, Magdalena Pajdowska, Katarzyna Skrzypek, Agnieszka Charzewska, Dorota Hoffman-Zacharska
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherit
Externí odkaz:
https://doaj.org/article/1e2c7a65f519419d9227e5651b457b27
Autor:
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska
Publikováno v:
Diagnostics, Vol 14, Iss 17, p 1956 (2024)
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS). There is a scarcity of literature concerning the process of growth in children with Mucopolys
Externí odkaz:
https://doaj.org/article/c3be6138faa04bbda6f81883f78fec11
Autor:
Patryk Lipiński, Anna Tylki-Szymańska
Publikováno v:
Diagnostics, Vol 14, Iss 12, p 1299 (2024)
The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs). The aim of this manuscript was to provide a comprehensive overview on liver involvement in LSDs,
Externí odkaz:
https://doaj.org/article/34d87303af1d4414bd29d5c7b4e829cf
Autor:
Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade
Publikováno v:
JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)
Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with rela
Externí odkaz:
https://doaj.org/article/bbb97439dbff47198444dd0e83e7f0cb
Autor:
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Maciej Pronicki, Elżbieta Jurkiewicz, Anna Bogdańska, Rafał Płoski, Irena Jankowska
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Adenosine kinase (ADK) deficiency is a rare inborn error of methionine and adenosine metabolism. So far, a total of 27 patients with ADK deficiency have been reported. Here, we describe the first Polish patient diagnosed with ADK deficiency, aiming t
Externí odkaz:
https://doaj.org/article/fcbd64df5adf4defb90d4f6a0510d73d
Autor:
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Magda Mekrouda, Joanna Cielecka-Kuszyk, Elżbieta Jurkiewicz, Rafał Płoski, Joanna Pawłowska, Irena Jankowska
Publikováno v:
Diagnostics, Vol 13, Iss 11, p 1917 (2023)
Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from th
Externí odkaz:
https://doaj.org/article/16db7973c3c34ca191f656577057ac31
Autor:
Patryk Lipiński, Joanna Cielecka-Kuszyk, Elżbieta Czarnowska, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss 3, Pp 278-283 (2021)
Background: Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and their attachment to proteins and lipids. Histologically, liver steatosis, fibrosis and cirrhosis have been reported in CDG.The aim of the stud
Externí odkaz:
https://doaj.org/article/f59702f10b1e40a1a33ce8666e52e9cf
Autor:
Małgorzata Batycka, Ewa Lange, Ewa Ehmke vel Emczyńska-Seliga, Maciej Jaworski, Maria Kobylińska, Natalia Lech, Emilia Samborowska, Patryk Lipiński, Barbara Perkowska, Paulina Pokora, Dariusz Rokicki
Publikováno v:
Nutrients, Vol 15, Iss 9, p 2112 (2023)
Background: Classical homocystinuria (HCU) is an inborn defect of methionine metabolism caused by a deficiency of the enzyme cystathionine β-synthase (CBS). The main symptoms of classical homocystinuria are lens subluxation, bone lesions, vascular d
Externí odkaz:
https://doaj.org/article/69b6d2998c0f41f1bfcb2426a3543fb7
Autor:
Paweł Dubiela, Paulina Szymańska-Rożek, Andrzej Eljaszewicz, Patryk Lipiński, Piotr Hasiński, Dorota Giersz, Alicja Walewska, Marlena Tynecka, Marcin Moniuszko, Anna Tylki-Szymańska
Publikováno v:
Biomolecules, Vol 13, Iss 4, p 644 (2023)
Gaucher disease (GD) is the most frequent sphingolipidosis, caused by biallelic pathogenic variants in the GBA1 gene encoding for β-glucocerebrosidase (GCase, E.C. 3.2.1.45). The condition is characterized by hepatosplenomegaly, hematological abnorm
Externí odkaz:
https://doaj.org/article/0c7ce5d3a985460f9ee8a8057bc41750
Autor:
Paulina Szymańska-Rożek, Barbara Czartoryska, Grazina Kleinotiene, Patryk Lipiński, Anna Tylki-Szymańska, Agnieszka Ługowska
Publikováno v:
Biomolecules, Vol 13, Iss 3, p 436 (2023)
Chitotriosidase is an enzyme produced and secreted in large amounts by activated macrophages, especially macrophages loaded with phagocytozed glycosphingolipid in Gaucher disease. Macrophages phagocytose decayed blood cells that contain a lot of sphi
Externí odkaz:
https://doaj.org/article/79e52e996b27402fb90ce9e55d422233