Ewa Pronicka

Summary

Affiliation: The Children's Memorial Health Institute
Country: Poland

Publications

  1. ncbi request reprint The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation
    Ewa Pronicka
    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
    Mitochondrion 13:810-6. 2013
  2. ncbi request reprint [Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background]
    Ewa Pronicka
    Klinika Chorób Metabolicznych, Endokrynologii i Diabetologii, Instytut Pomnik Centrum Zdrowia Dziecka, Warszawa
    Postepy Biochem 54:161-8. 2008
  3. ncbi request reprint Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia
    Ewa Pronicka
    Department of Metabolic Diseases, Children s Memorial Health Institute, Warsaw 04 730, Poland
    Pediatr Res 62:101-5. 2007
  4. pmc Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
    Ewa Pronicka
    Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute CMHI, Aleja Dzieci Polskich 20, 04 730, Warsaw, Poland
    J Appl Genet 52:61-6. 2011
  5. pmc Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene
    Ewa Pronicka
    Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute Warsaw, Poland
    Med Sci Monit 17:CR203-9. 2011
  6. ncbi request reprint Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria)
    Agnieszka Karkucińska-Więckowska
    Department of Pathology, Children s Memorial Health Institute, Warsaw, Poland
    Folia Neuropathol 49:56-63. 2011
  7. ncbi request reprint A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland
    Dorota Piekutowska-Abramczuk
    Department of Medical Genetics, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    J Inherit Metab Dis 33:S373-7. 2010
  8. ncbi request reprint High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients
    Dorota Piekutowska-Abramczuk
    Department of Medical Genetics, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    Eur J Paediatr Neurol 13:146-53. 2009
  9. ncbi request reprint "Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation
    Piotr Buda
    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
    Folia Neuropathol 51:347-54. 2013
  10. pmc Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome
    Agnieszka Karkucińska-Więckowska
    Department of Pathology, The Children s Memorial Health Institute, Warsaw, Poland
    J Inherit Metab Dis 36:929-37. 2013

Collaborators

Detail Information

Publications23

  1. ncbi request reprint The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation
    Ewa Pronicka
    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
    Mitochondrion 13:810-6. 2013
    ..The prevalence of SCO2 deficiency in Poland is relatively high. A search for SCO2 mutations in patients with histology resembling SMA appears to efficiently improve the detection rate...
  2. ncbi request reprint [Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background]
    Ewa Pronicka
    Klinika Chorób Metabolicznych, Endokrynologii i Diabetologii, Instytut Pomnik Centrum Zdrowia Dziecka, Warszawa
    Postepy Biochem 54:161-8. 2008
    ..Further research directions to improve our understanding of mitochondrial pathologies in children are suggested...
  3. ncbi request reprint Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia
    Ewa Pronicka
    Department of Metabolic Diseases, Children s Memorial Health Institute, Warsaw 04 730, Poland
    Pediatr Res 62:101-5. 2007
    ..Persistence of some abnormalities in HFI on treatment may be caused by trace amounts of fructose ingestion and/or a deficient diet. Regular %CDT measurements are suggested for HFI treatment monitoring...
  4. pmc Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
    Ewa Pronicka
    Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute CMHI, Aleja Dzieci Polskich 20, 04 730, Warsaw, Poland
    J Appl Genet 52:61-6. 2011
    ....
  5. pmc Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene
    Ewa Pronicka
    Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute Warsaw, Poland
    Med Sci Monit 17:CR203-9. 2011
    ..The diagnostic triad of AHS is: resistant epilepsy, liver impairment triggered by sodium valproate (VA), and mitochondrial DNA depletion...
  6. ncbi request reprint Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria)
    Agnieszka Karkucińska-Więckowska
    Department of Pathology, Children s Memorial Health Institute, Warsaw, Poland
    Folia Neuropathol 49:56-63. 2011
    ....
  7. ncbi request reprint A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland
    Dorota Piekutowska-Abramczuk
    Department of Medical Genetics, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    J Inherit Metab Dis 33:S373-7. 2010
    ..Our data allow us to suggest a probable Kashubian origin of the prevalent c.1528G>C mutation. ..
  8. ncbi request reprint High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients
    Dorota Piekutowska-Abramczuk
    Department of Medical Genetics, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    Eur J Paediatr Neurol 13:146-53. 2009
    ..845_846delCT mutation dominance allows one to start the differential diagnosis of LS in each patient of Polish (and probably Slavonic) origin from the direct search for c.845_846delCT SURF1 mutation...
  9. ncbi request reprint "Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation
    Piotr Buda
    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
    Folia Neuropathol 51:347-54. 2013
    ..However, the random association of these factors with natural disease fluctuations cannot be excluded...
  10. pmc Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome
    Agnieszka Karkucińska-Więckowska
    Department of Pathology, The Children s Memorial Health Institute, Warsaw, Poland
    J Inherit Metab Dis 36:929-37. 2013
    ..2) Severe lactic acidosis without 3-methylglutaconic aciduria in male neonates as well as an asymptomatic mild left ventricular noncompaction may characterise the ranges of natural history of Barth syndrome...
  11. doi request reprint Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening
    Jolanta Sykut-Cegielska
    Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute, Warsaw, Poland
    J Inherit Metab Dis 34:185-95. 2011
    ..3) The nationwide selective screening appeared efficient in LCHADD detection in the country. 4) Transient mild hyperphenylalaninaemia may occur in LCHAD-deficient newborns...
  12. ncbi request reprint Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders
    Magdalena Lebiedzinska
    Nencki Institute of Experimental Biology, Warsaw, Poland
    Biochim Biophys Acta 1797:952-60. 2010
    ..This suggest that SOD2 is under control of the Ser36 phosphorylation status of p66Shc protein. As a consequence, an intracellular oxidative stress and accumulation of damages caused by oxygen free radicals are observed in the cells...
  13. ncbi request reprint Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Electronic address
    Eur J Paediatr Neurol 18:183-92. 2014
    ..As the IGHMBP2 gene is characterized by significant heterogeneity, genetic counseling of affected families is rendered more complex. IGHMBP2 protein deficiency can lead to the degeneration of nuclei, in both muscle and Schwann cells. ..
  14. doi request reprint Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene
    Jolanta Kubalska
    Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warszawa, Poland
    J Appl Genet 49:109-13. 2008
    ..Multicenter analysis of such persons would finally determine if the early lipid-lowering procedures can significantly reduce the risk of premature cardiovascular disease in homozygous FH...
  15. doi request reprint Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
    Agnieszka Jurecka
    Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    Mol Genet Metab 94:435-42. 2008
    ..A search for this disorder should be included in the screening program of all infants with unexplained neonatal seizures, severe infantile epileptic encephalopathy, developmental delay, hypotonia, and/or autistic features...
  16. ncbi request reprint Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation)
    Maciej Pronicki
    Department of Pathology, Children s Memorial Health Institute, Warsaw, Poland
    Med Sci Monit 8:CR767-73. 2002
    ..MELAS (mitochondrial myopathy, lactic acidosis and stroke-like episodes) is one of the most common mitochondrial encephalomyopathies...
  17. ncbi request reprint MRI of a family with leukoencephalypathy with vanishing white matter
    Elzbieta Jurkiewicz
    Department of Diagnostic Imaging, The Children s Memorial Health Institute, Warsaw, Poland
    Pediatr Radiol 35:1027-30. 2005
    ..The MRI showed symmetrical diffuse abnormalities of cerebral white matter with hypointensity on FLAIR images. The diagnosis of leukoencephalopathy with VWM was made on the basis of genetic analysis...
  18. ncbi request reprint False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites
    Anna Weglewska-Jurkiewicz
    Department of Molecular Biology, University of Gdansk, Kładki 24, 80 822 Gdansk, Poland
    Diagn Mol Pathol 16:116-20. 2007
    ....
  19. ncbi request reprint Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations
    Petr Pecina
    Institute of Physiology and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, 142 20 Prague, Czech Republic
    Am J Physiol Cell Physiol 287:C1384-8. 2004
    ..These results suggest that at physiologically low intracellular PO2, the depressed oxygen affinity may lead in vivo to limitations of respiration, resulting in impaired energy provision in Leigh syndrome patients...
  20. ncbi request reprint Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency
    Marek Böhm
    Department of Pediatrics, Faculty of Medicine, Charles University, Prague, Czech Republic
    Pediatr Res 59:21-6. 2006
    ....
  21. ncbi request reprint Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population
    Jakub Gruchota
    Department of Forensic Medicine, Medical University of Warsaw, Poland
    Mol Genet Metab 87:376-8. 2006
    ..448 G > C (p.A150P, 67% of chromosomes) was screened for in a group of 1049 randomly selected unrelated individuals. Eight (1:131) carriers were found allowing to estimate the HFI prevalence in Poland as 1:31,000...
  22. pmc Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
    Petr Vyletal
    Center for Applied Genomics, Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
    Hum Mutat 28:255-64. 2007
    ..833C; -] chromosomes may have originated by recurrent gene conversion employing the common nonpathogenic c.[833C; 844_845ins68] chromosomes as templates...
  23. ncbi request reprint [MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes]
    Hanna Mierzewska
    Zakładu Genetyki Instytutu Psychiatrii i Neurologii, Warszawa
    Neurol Neurochir Pol 36:457-70. 2002
    ..Although there is no specific therapy for mitochondrial diseases to date, coenzyme Q and various vitamins as well as moderate degree exercise might be recommended...