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Page 1
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.
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.
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.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Hayhurst H, et al. Among authors: wesol kucharska d. Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911575 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.
14 results