Rokicki D - Search Results

1

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

2

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.

3

Schimke immuno-osseous dysplasia: two cases.

Tylki-Szymańska A, Pyrkosz A, Krajewska-Walasek M, Michałkiewicz J, Kowalska A, Rokicki D. Tylki-Szymańska A, et al. Among authors: rokicki d. Pediatr Radiol. 2003 Mar;33(3):216-8. doi: 10.1007/s00247-002-0852-y. Epub 2002 Dec 10. Pediatr Radiol. 2003. PMID: 12612825

4

Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.

Adamowicz M, Płoski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E. Adamowicz M, et al. Among authors: rokicki d. J Inherit Metab Dis. 2007 Jun;30(3):407. doi: 10.1007/s10545-007-0569-z. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457694

5

Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia.

Pronicka E, Adamowicz M, Kowalik A, Płoski R, Radomyska B, Rogaszewska M, Rokicki D, Sykut-Cegielska J. Pronicka E, et al. Among authors: rokicki d. Pediatr Res. 2007 Jul;62(1):101-5. doi: 10.1203/PDR.0b013e318068641a. Pediatr Res. 2007. PMID: 17515832

6

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J. Kusmierska K, et al. Among authors: rokicki d. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S5-10. doi: 10.1007/s10545-008-1009-4. Epub 2009 Jan 7. J Inherit Metab Dis. 2009. PMID: 19130291

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

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

Kuśmierska K, Szymańska K, Rokicki D, Kotulska K, Jóźwiak S, Sykut-Cegielska J, Mierzewska H, Szczepanik E, Pronicka E, Demkow U. Kuśmierska K, et al. Among authors: rokicki d. Adv Exp Med Biol. 2016;878:73-82. doi: 10.1007/5584_2015_167. Adv Exp Med Biol. 2016. PMID: 26453071

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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