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Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy.
Fałek O, Wesół-Kucharska D, Starostecka E, Rokicki D, Fortecka-Piestrzeniewicz K, Kępczyński Ł, Piekutowska-Abramczuk D, Ciara E, Maroszyńska I. Fałek O, et al. Among authors: wesol kucharska d. Genes (Basel). 2024 Sep 30;15(10):1289. doi: 10.3390/genes15101289. Genes (Basel). 2024. PMID: 39457413 Free PMC article.
Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin.
Kaczor M, Malicki S, Folkert J, Dobosz E, Bryzek D, Chruscicka-Smaga B, Greczan M, Wesół-Kucharska D, Piątosa B, Samborowska E, Madzio J, Książyk J, Ehmke Vel Emczyńska E, Hajdacka M, Potempa J, Młynarski W, Rokicki D, Veillard F. Kaczor M, et al. Among authors: wesol kucharska d. Blood Adv. 2024 Jun 11;8(11):2790-2802. doi: 10.1182/bloodadvances.2023012403. Blood Adv. 2024. PMID: 38531056 Free PMC article.
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Grünert SC, Derks TGJ, Mundy H, Dalton RN, Donadieu J, Hofbauer P, Jones N, Uçar SK, LaFreniere J, Contreras EL, Pendyal S, Rossi A, Schneider B, Spiegel R, Stepien KM, Wesol-Kucharska D, Veiga-da-Cunha M, Wortmann SB. Grünert SC, et al. Among authors: wesol kucharska d. Mol Genet Metab. 2024 Mar;141(3):108144. doi: 10.1016/j.ymgme.2024.108144. Epub 2024 Jan 17. Mol Genet Metab. 2024. PMID: 38277989 Free article. Review.
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
Wesół-Kucharska D, Rokicki D, Greczan M, Kaczor M, Czekuć-Kryśkiewicz E, Piekutowska-Abramczuk D, Halat-Wolska P, Ciara E, Jaworski M, Jezela-Stanek A. Wesół-Kucharska D, et al. Pediatr Endocrinol Diabetes Metab. 2022;28(2):141-151. doi: 10.5114/pedm.2022.116116. Pediatr Endocrinol Diabetes Metab. 2022. PMID: 35620925 Free PMC article.
Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.
Kaczor M, Wesół-Kucharska D, Greczan M, Kierus K, Kałużny Ł, Duś-Żuchowska M, Ehmke Vel Emczyńska-Seliga E, Ciara E, Książyk J, Rokicki D. Kaczor M, et al. Among authors: wesol kucharska d. Pediatr Endocrinol Diabetes Metab. 2022;28(3):207-212. doi: 10.5114/pedm.2022.116115. Pediatr Endocrinol Diabetes Metab. 2022. PMID: 35620924 Free PMC article.
Sodium-glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
Kaczor M, Greczan M, Kierus K, Ehmke Vel Emczyńska-Seliga E, Ciara E, Piątosa B, Rokicki D, Książyk J, Wesół-Kucharska D. Kaczor M, et al. Among authors: wesol kucharska d. JIMD Rep. 2022 Mar 2;63(3):199-206. doi: 10.1002/jmd2.12278. eCollection 2022 May. JIMD Rep. 2022. PMID: 35433171 Free PMC article.
Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
Wesół-Kucharska D, Greczan M, Kaczor M, Pajdowska M, Piekutowska-Abramczuk D, Ciara E, Halat-Wolska P, Kowalski P, Jurkiewicz E, Rokicki D. Wesół-Kucharska D, et al. Mol Genet Metab Rep. 2021 Sep 29;29:100801. doi: 10.1016/j.ymgmr.2021.100801. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34631424 Free PMC article.
15 results