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Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Pokora P, Jezela-Stanek A, Różdżyńska-Świątkowska A, Jurkiewicz E, Bogdańska A, Szymańska E, Rokicki D, Ciara E, Rydzanicz M, Stawiński P, Płoski R, Tylki-Szymańska A. Pokora P, et al. Among authors: bogdanska a. Metab Brain Dis. 2019 Apr;34(2):641-649. doi: 10.1007/s11011-018-0357-5. Epub 2018 Dec 20. Metab Brain Dis. 2019. PMID: 30570710 Free PMC article.
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: bogdanska a. 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.
ATP6AP1-CDG: Follow-up and female phenotype.
Lipiński P, Rokicki D, Bogdańska A, Lesiak J, Lefeber DJ, Tylki-Szymańska A. Lipiński P, et al. Among authors: bogdanska a. JIMD Rep. 2020 Apr 9;53(1):80-82. doi: 10.1002/jmd2.12104. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395412 Free PMC article.
Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.
Lipiński P, Jurkiewicz D, Ciara E, Płoski R, Więcek S, Bogdańska A, Stradomska T, Socha P, Rokicki D, Tylki-Szymańska A, Jankowska I. Lipiński P, et al. Among authors: bogdanska a. Acta Biochim Pol. 2020 May 21;67(2):225-228. doi: 10.18388/abp.2020_5202. Acta Biochim Pol. 2020. PMID: 32436673 Free article.
27 results