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Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria-A Preliminary Study.
Batycka M, Lange E, Ehmke Vel Emczyńska-Seliga E, Jaworski M, Kobylińska M, Lech N, Samborowska E, Lipiński P, Perkowska B, Pokora P, Rokicki D. Batycka M, et al. Among authors: rokicki d. Nutrients. 2023 Apr 27;15(9):2112. doi: 10.3390/nu15092112. Nutrients. 2023. PMID: 37432246 Free PMC article.
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: rokicki d. 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: rokicki d. 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.
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Jankowska I, Czubkowski P, Rokicki D, Lipiński P, Piekutowska-Abramczuk D, Ciara E, Płoski R, Kaliciński P, Szymczak M, Pawłowska J, Socha P. Jankowska I, et al. Among authors: rokicki d. Clin Res Hepatol Gastroenterol. 2021 Jan;45(1):101408. doi: 10.1016/j.clinre.2020.02.018. Epub 2020 Apr 8. Clin Res Hepatol Gastroenterol. 2021. PMID: 32278775 Review.
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: rokicki d. 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: rokicki d. Acta Biochim Pol. 2020 May 21;67(2):225-228. doi: 10.18388/abp.2020_5202. Acta Biochim Pol. 2020. PMID: 32436673 Free article.
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
Lipiński P, Greczan M, Piekutowska-Abramczuk D, Jurkiewicz E, Bakuła A, Socha P, Jankowska I, Rokicki D, Tylki-Szymańska A. Lipiński P, et al. Among authors: rokicki d. Metab Brain Dis. 2021 Oct;36(7):2169-2172. doi: 10.1007/s11011-021-00827-z. Epub 2021 Aug 24. Metab Brain Dis. 2021. PMID: 34427841 Free PMC article.
82 results