Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Magdalena Kaczor"'
Autor:
Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke vel Emczyńska-Seliga, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki
Publikováno v:
Nutrients, Vol 16, Iss 6, p 812 (2024)
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 the effectiveness and safety of the ketogenic diet
Externí odkaz:
https://doaj.org/article/b027d73eaeb945ce9c4ac21af7e5019c
Autor:
Magdalena Kaczor, Milena Greczan, Karolina Kierus, Ewa Ehmke vel Emczyńska‐Seliga, Elżbieta Ciara, Barbara Piątosa, Dariusz Rokicki, Janusz Książyk, Dorota Wesół‐Kucharska
Publikováno v:
JIMD Reports, Vol 63, Iss 3, Pp 199-206 (2022)
Abstract Glycogen storage disease type 1b (GSD 1b) is an inherited metabolic defect caused by biallelic mutations in the SLC37A4 gene encoding microsomal glucose‐6‐phosphate (G6P) transporter in the endoplasmic reticulum (ER) membrane. Ineffectiv
Externí odkaz:
https://doaj.org/article/7b1d9a5cd1ba434da70d48b846a85109
Autor:
Milena Greczan, Dariusz Rokicki, Dorota Wesół-Kucharska, Magdalena Kaczor, Agata Rawiak, Aleksandra Jezela-Stanek
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
N-glycosylation defects—isolated or mixed with other glycosylation defects—are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features. The diagnosis
Externí odkaz:
https://doaj.org/article/01e4bffceeae414797afde56690a9d68
Autor:
Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Magdalena Pajdowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Paulina Halat-Wolska, Paweł Kowalski, Elżbieta Jurkiewicz, Dariusz Rokicki
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100801- (2021)
Background: Biotin–thiamine–responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. co
Externí odkaz:
https://doaj.org/article/2419198a44cd46599c5f697d8af3eb14
Autor:
Dorota Wesół-Kucharska, Magdalena Kaczor, Magdalena Pajdowska, Ewa Ehmke vel Emczyńska-Seliga, Anna Bogdańska, Dariusz Kozłowski, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Dariusz Rokicki
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Introduction: Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation of methylmalonic acid in body fluids. One of the causes of the disease is the methylmalonic aciduria, cblA type (cblA – type MMA), conditio
Externí odkaz:
https://doaj.org/article/8668316826d4472e9c29628b08a46e59
Autor:
Anna Maria Czarnecka, Marta Obara-Michlewska, Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Janusz Książyk, Dariusz Rokicki, Magdalena Zielińska
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 6; Pages: 2411
Individuals with inherited hyperammonemias often present developmental and intellectual deficiencies which are likely to be exaggerated by hyperammonemia episodes in long-term outcomes. In order to find a new, systemic marker common to the course of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2879c3e00ee6a1f5f4d6b2dd19e9cfa2
Autor:
Magdalena Kaczor, Dorota Wesół-Kucharska, Milena Greczan, Karolina Kierus, Łukasz Kałużny, Monika Duś-Żuchowska, Ewa Ehmke vel Emczyńska-Seliga, Elżbieta Ciara, Janusz Książyk, Dariusz Rokicki
Publikováno v:
Pediatric Endocrinology Diabetes and Metabolism. 28:207-212
Glycogen storage disease type 1b (GSD 1b) is an inherited metabolic defect caused by a deficiency of microsomal glucose-6-phosphate (G6P) transport protein across the endoplasmic reticulum membrane. Patients with GSD 1b have hypoglycemia episodes, la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a077de0adfccbb8807ab82050bf5e73
https://doi.org/10.5114/pedm.2022.116115
https://doi.org/10.5114/pedm.2022.116115
Autor:
Dorota Wesół-Kucharska, Dariusz Rokicki, Milena Greczan, Magdalena Kaczor, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek
Publikováno v:
Pediatric Endocrinology Diabetes and Metabolism. 28:141-151
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.The study objective was to verify if the FGF21 concentration in paediatric pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b999100158e4810f481215a531ce8bec
https://doi.org/10.5114/pedm.2022.116116
https://doi.org/10.5114/pedm.2022.116116
Autor:
Magdalena Kaczor, Dorota Wesół-Kucharska, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Milena Greczan, Dariusz Rokicki, Elżbieta Jurkiewicz, Magdalena Pajdowska, Elżbieta Ciara
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100801-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background Biotin–thiamine–responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900199864a07c6dca5da83a3d688a470
http://www.sciencedirect.com/science/article/pii/S2214426921000951
http://www.sciencedirect.com/science/article/pii/S2214426921000951
Autor:
Pierre Ellssel, Georg Küstner, Magdalena Kaczorowska-Dolowy, Eduardo Vázquez, Claudia Di Bene, Honghong Li, Diego Brizuela-Torres, Elansurya Elangovan Vennila, José Luis Vicente-Vicente, Daniel Itzamna Avila-Ortega
Publikováno v:
Frontiers in Sustainable Food Systems, Vol 8 (2024)
Enhancing the reliability of literature reviews and evidence synthesis is crucial for advancing the transformation of agriculture and food (agri-food) systems as well as for informed decisions and policy making. In this perspective, we argue that evi
Externí odkaz:
https://doaj.org/article/72678fd7cc6b435aa2fac4ee5701ed43