Publications by authors named "Dorota Piekutowska-Abramczuk"

46Publications

Acute liver failure due to DGUOK deficiency-is liver transplantation justified?

Clin Res Hepatol Gastroenterol 2020 Apr 8. Epub 2020 Apr 8.

Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.clinre.2020.02.018DOI Listing
April 2020

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.

Int J Pediatr Otorhinolaryngol 2019 Jun 16;121:143-149. Epub 2019 Mar 16.

- Department of Pathology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ijporl.2019.03.015DOI Listing
June 2019

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

Eur J Paediatr Neurol 2016 May 4;20(3):462-73. Epub 2016 Feb 4.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ejpn.2016.01.007DOI Listing
May 2016

Tyrosinemia type III in an asymptomatic girl.

Mol Genet Metab Rep 2015 Dec 22;5:48-50. Epub 2015 Oct 22.

Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgmr.2015.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471395PMC
December 2015

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

J Appl Genet 2014 Aug 20;55(3):329-36. Epub 2014 Apr 20.

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland,

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http://dx.doi.org/10.1007/s13353-014-0212-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102774PMC
August 2014

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

Folia Neuropathol 2013 ;51(4):347-54

Katarzyna Kotulska, Department of Child Neurology and Epileptology, The Children's Memorial Health Institute, Al. Dzieci Polskich, 04-730 Warsaw, Poland, phone: +48 22 815 74 04, fax: 48-22-815 74 02, e-mail:

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http://dx.doi.org/10.5114/fn.2013.39726DOI Listing
July 2014

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

Mitochondrion 2013 Nov 26;13(6):810-6. Epub 2013 May 26.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2013.05.007DOI Listing
November 2013

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests.

Gene 2012 Sep 2;506(1):161-5. Epub 2012 Jul 2.

Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw ul. Pawińskiego 5A, 02-106 Warsaw, Poland.

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http://dx.doi.org/10.1016/j.gene.2012.06.081DOI Listing
September 2012

Ganglioglioma associated with alterations of NBN gene. A case report.

Folia Neuropathol 2009 ;47(3):278-83

Department of Pathology, The Children's Memorial Heath Institute, 04-730 Warsaw, Poland.

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November 2009

The frequency of NBN molecular variants in pediatric astrocytic tumors.

J Neurooncol 2010 Jan 22;96(2):161-8. Epub 2009 Jul 22.

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

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http://dx.doi.org/10.1007/s11060-009-9958-5DOI Listing
January 2010

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

Postepy Biochem 2008 ;54(2):161-8

Klinika Chorób Metabolicznych, Endokrynologii i Diabetologii, Instytut Pomnik-Centrum Zdrowia Dziecka, Warszawa.

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November 2008

[The molecular background of Leigh syndrome].

Neurol Neurochir Pol 2008 May-Jun;42(3):238-50

Instytut Pomnik - Centrum Zdrowia Dziecka, Zakład Genetyki Medycznej, Al. Dzieci Polskich 20, 04-730 Warszawa.

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November 2008

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

Eur J Paediatr Neurol 2009 Mar 26;13(2):146-53. Epub 2008 Jun 26.

Department of Medical Genetics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ejpn.2008.03.009DOI Listing
March 2009