Rokicki D - Search Results

1

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: rokicki d. Nutrients. 2024 Mar 13;16(6):812. doi: 10.3390/nu16060812. Nutrients. 2024. PMID: 38542723 Free PMC article.

2

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy.

Yan SE, Lemmin T, Salvi S, Lausch E, Superti-Furga A, Rokicki D, Dal Peraro M, van der Goot FG. Yan SE, et al. Among authors: rokicki d. Hum Mutat. 2013 Jul;34(7):1005-17. doi: 10.1002/humu.22324. Epub 2013 Apr 19. Hum Mutat. 2013. PMID: 23554269

3

Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S. Flanagan S, et al. Among authors: rokicki d. Pediatr Diabetes. 2012 May;13(3):285-9. doi: 10.1111/j.1399-5448.2011.00821.x. Epub 2011 Oct 7. Pediatr Diabetes. 2012. PMID: 21978130

4

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.

van Diggelen OP, Zaremba J, He W, Keulemans JL, Boer AM, Reuser AJ, Ausems MG, Smeitink JA, Kowalczyk J, Pronicka E, Rokicki D, Tarnowska-Dziduszko E, Kneppers AL, Bakker E. van Diggelen OP, et al. Among authors: rokicki d. Clin Genet. 1996 Nov;50(5):310-6. doi: 10.1111/j.1399-0004.1996.tb02380.x. Clin Genet. 1996. PMID: 9007316

5

Inhibition of proliferation, migration and invasiveness of endothelial murine cells culture induced by resveratrol.

Rokicki D, Zdanowski R, Lewicki S, Leśniak M, Suska M, Wojdat E, Skopińska-Różewska E, Skopiński P. Rokicki D, et al. Cent Eur J Immunol. 2014;39(4):449-54. doi: 10.5114/ceji.2014.47727. Epub 2014 Dec 15. Cent Eur J Immunol. 2014. PMID: 26155161 Free PMC article.

6

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.

Popowska E, Ciara E, Rokicki D, Pronicka E. Popowska E, et al. Among authors: rokicki d. J Inherit Metab Dis. 1999 Feb;22(1):92-3. doi: 10.1023/a:1005476021549. J Inherit Metab Dis. 1999. PMID: 10070627 No abstract available.

7

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M. Szymanska S, et al. Among authors: rokicki d. Folia Neuropathol. 2014;52(4):452-6. doi: 10.5114/fn.2014.47847. Folia Neuropathol. 2014. PMID: 25574751 Free article.

8

Leigh disease due to SCO2 mutations revealed at extended autopsy.

Szymanska-Debinska T, Karkucinska-Wieckowska A, Piekutowska-Abramczuk D, Jurkiewicz E, Iwanicka-Pronicka K, Rokicki D, Pronicki M. Szymanska-Debinska T, et al. Among authors: rokicki d. J Clin Pathol. 2015 May;68(5):397-9. doi: 10.1136/jclinpath-2014-202606. Epub 2015 Feb 26. J Clin Pathol. 2015. PMID: 25720770 No abstract available.

9

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: rokicki d. 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

10

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.

Szymańska E, Rokicki D, Wątrobinska U, Ciara E, Halat P, Płoski R, Tylki-Szymańka A. Szymańska E, et al. Among authors: rokicki d. Mol Genet Metab Rep. 2015 Aug 24;4:83-6. doi: 10.1016/j.ymgmr.2015.07.003. eCollection 2015 Sep. Mol Genet Metab Rep. 2015. PMID: 26937415 Free PMC article.

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