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Tyrosinemia type III in an asymptomatic girl.
Szymanska E, Sredzinska M, Ciara E, Piekutowska-Abramczuk D, Ploski R, Rokicki D, Tylki-Szymanska A. Szymanska E, et al. Among authors: ciara e. Mol Genet Metab Rep. 2015 Oct 22;5:48-50. doi: 10.1016/j.ymgmr.2015.10.004. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649543 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: ciara e. 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.
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: ciara e. 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.
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Płoski R, Krajewska-Walasek M, Pronicka E. Jezela-Stanek A, et al. Among authors: ciara e. Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4. Eur J Paediatr Neurol. 2016. PMID: 26879448
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, Ciara E, Trubicka J, Pronicki M, Rokicki D, Rydzanicz M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: ciara e. Folia Neuropathol. 2016;54(4):405-409. doi: 10.5114/fn.2016.64819. Folia Neuropathol. 2016. PMID: 28139822 Free article.
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Haidar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB. Rokicki D, et al. Among authors: ciara e. Clin Chim Acta. 2017 Aug;471:95-100. doi: 10.1016/j.cca.2017.05.023. Epub 2017 May 17. Clin Chim Acta. 2017. PMID: 28526534
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: ciara e. 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: ciara e. 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.
103 results