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Page 1
Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations.
Wesół-Kucharska D, Kaczor M, Pajdowska M, Ehmke Vel Emczyńska-Seliga E, Bogdańska A, Kozłowski D, Piekutowska-Abramczuk D, Ciara E, Rokicki D. Wesół-Kucharska D, et al. Among authors: kaczor m. Mol Genet Metab Rep. 2020 Jan 8;22:100559. doi: 10.1016/j.ymgmr.2019.100559. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 31921599 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. Among authors: kaczor m. 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. 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.
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. Among authors: kaczor m. 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.
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
Wesół-Kucharska D, Greczan M, Kaczor M, Ehmke Vel Emczyńska-Seliga E, Hajdacka M, Czekuć-Kryśkiewicz E, Piekutowska-Abramczuk D, Halat-Wolska P, Ciara E, Jaworski M, Jezela-Stanek A, Rokicki D. Wesół-Kucharska D, et al. Among authors: kaczor m. Nutrients. 2024 Mar 13;16(6):812. doi: 10.3390/nu16060812. Nutrients. 2024. PMID: 38542723 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. Blood Adv. 2024 Jun 11;8(11):2790-2802. doi: 10.1182/bloodadvances.2023012403. Blood Adv. 2024. PMID: 38531056 Free PMC article.
74 results