Publications by authors named "Ewa Pronicka"

64Publications

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:

View Article

Download full-text PDF

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

Hypocapnic hypothesis of Leigh disease.

Authors:
Ewa Pronicka

Med Hypotheses 2017 Apr 1;101:23-27. Epub 2017 Feb 1.

The Children's Memorial Health Institute, Department of Pediatrics, Nutrition and Metabolic Diseases, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mehy.2017.01.016DOI Listing
April 2017

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II.

Mol Genet Metab Rep 2016 Mar 18;6:5-7. Epub 2015 Dec 18.

Department of Paediatric Endocrinology and Diabetology, Pomeranian Medical University in Szczecin, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2015.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789339PMC
March 2016

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.

View Article

Download full-text PDF

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

"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:

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.

Biochim Biophys Acta 2012 Jul 20;1822(7):1114-24. Epub 2012 Mar 20.

Institute of Physiology, Academy of Science of the Czech Republic, v.v.i., Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2012.03.007DOI Listing
July 2012

[Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy)].

Kardiol Pol 2011 ;69(11):1177-80

Klinika Kardiologii Wieku Dziecięcego i Pediatrii Ogólnej, Warszawski Uniwersytet Medyczny, Warszawa.

View Article

Download full-text PDF

Source
April 2012

[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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Mol Genet Metab 2008 Aug 3;94(4):435-42. Epub 2008 Jun 3.

Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2008.04.013DOI Listing
August 2008

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.

J Appl Genet 2008 ;49(1):109-13

Department of Metabolic Diseases, Endocrinology and Diabetology, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warszawa, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/BF03195256DOI Listing
July 2008

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

Mol Genet Metab 2007 Apr 16;90(4):408-13. Epub 2007 Feb 16.

Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2007.01.003DOI Listing
April 2007

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.

Mol Genet Metab 2006 Apr 10;87(4):376-8. Epub 2006 Jan 10.

Department of Forensic Medicine, Medical University of Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2005.11.010DOI Listing
April 2006

Genetic background of HSH in three Polish families and a patient with an X;9 translocation.

Eur J Hum Genet 2006 Jan;14(1):55-62

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Biomedicum Helsinki, Helsinki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201515DOI Listing
January 2006

MRI of a family with leukoencephalypathy with vanishing white matter.

Pediatr Radiol 2005 Oct 24;35(10):1027-30. Epub 2005 May 24.

Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-005-1498-3DOI Listing
October 2005

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.

Am J Physiol Cell Physiol 2004 Nov 21;287(5):C1384-8. Epub 2004 Jul 21.

Institute of Physiology and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, 142 20 Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajpcell.00286.2004DOI Listing
November 2004

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

Hum Mutat 2004 Jun;23(6):631

Institute of Inherited Metabolic Diseases, Charles University - First Faculty of Medicine, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9249DOI Listing
June 2004

Anthropometric characteristics of X-linked hypophosphatemia.

Am J Med Genet A 2004 Apr;126A(2):141-9

Department of Metabolic Diseases, The Children's Memorial Health Institute, Al Dzieci Polskich 20, 04-736 Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20572DOI Listing
April 2004

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

Med Sci Monit 2002 Nov;8(11):CR767-73

Department of Pathology, Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
November 2002