Piekutowska-Abramczuk D - Search Results

1

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E. Ciara E, et al. Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27144126 Free PMC article.

2

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

Wasniewska M, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Zablocki K, Popowska E, Pronicka E, Duszyński J. Wasniewska M, et al. Biochem Biophys Res Commun. 2001 May 11;283(3):687-93. doi: 10.1006/bbrc.2001.4834. Biochem Biophys Res Commun. 2001. PMID: 11341780

3

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

Pronicka E, Piekutowska-Abramczuk DH, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielskâ Y, Taybert J. Pronicka E, et al. J Inherit Metab Dis. 2001 Dec;24(7):707-14. doi: 10.1023/a:1012937204315. J Inherit Metab Dis. 2001. PMID: 11804207

4

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

Piekutowska-Abramczuk D, Popowska E, Pronicka E, Karczmarewicz E, Pronicki M, Kmieć T, Krajewska-Walasek M. Piekutowska-Abramczuk D, et al. J Appl Genet. 2001;42(1):103-8. J Appl Genet. 2001. PMID: 14564068

5

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Böhm M, et al. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16326995

6

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.

Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, Goryluk-Kozakiewicz B, Nowaczyk MJ, Krajewska-Walasek M. Ciara E, et al. Eur J Med Genet. 2006 Nov-Dec;49(6):499-504. doi: 10.1016/j.ejmg.2006.01.006. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16497572

7

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.

Pronicki M, Matyja E, Piekutowska-Abramczuk D, Szymanska-Debinska T, Karkucinska-Wieckowska A, Karczmarewicz E, Grajkowska W, Kmiec T, Popowska E, Sykut-Cegielska J. Pronicki M, et al. J Clin Pathol. 2008 Apr;61(4):460-6. doi: 10.1136/jcp.2007.051060. Epub 2007 Oct 1. J Clin Pathol. 2008. PMID: 17908801 Free PMC article.

8

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M. Jezela-Stanek A, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):124-40. doi: 10.1016/j.ejmg.2007.11.004. Epub 2007 Dec 8. Eur J Med Genet. 2008. PMID: 18249054

9

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E. Piekutowska-Abramczuk D, et al. Eur J Paediatr Neurol. 2009 Mar;13(2):146-53. doi: 10.1016/j.ejpn.2008.03.009. Epub 2008 Jun 26. Eur J Paediatr Neurol. 2009. PMID: 18583168

10

[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].

Pronicka E, Piekutowska-Abramczuk D, Pronicki M. Pronicka E, et al. Postepy Biochem. 2008;54(2):161-8. Postepy Biochem. 2008. PMID: 18807927 Review. Polish.

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