A Jurecka

Summary

Publications

  1. doi 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
  2. doi Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient
    Agnieszka Jurecka
    Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    J Inherit Metab Dis 33:S21-4. 2010
  3. doi Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene
    Agnieszka Jurecka
    Department of Molecular Biology, University of Gdansk, Gdansk, Poland
    Am J Med Genet A 161:1291-9. 2013
  4. doi Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy
    Agnieszka Jurecka
    Department of Metabolic Diseases, The Children s Memorial Health Institute, Warsaw, Poland
    Pediatr Neurosurg 48:191-8. 2012
  5. doi Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up
    Agnieszka Jurecka
    Department of Metabolic Diseases, Children s Memorial Health Institute, Warsaw, Poland
    Pediatr Neurol 47:461-5. 2012
  6. doi Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature
    Agnieszka Jurecka
    Department of Medical Genetics, The Children s Memorial Health Institute, Warsaw, Poland
    Mol Genet Metab 107:508-12. 2012
  7. doi Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency
    Agnieszka Jurecka
    Metabolic Diseases Clinic, The Children s Memorial Health Institute, Warsaw, Poland
    J Child Neurol 27:645-9. 2012
  8. doi Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype
    Agnieszka Jurecka
    Metabolic Diseases Clinic, The Children s Memorial Health Institute, Warsaw, Poland
    Mol Genet Metab 104:695-9. 2011
  9. doi Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia
    Agnieszka Jurecka
    Department of Molecular Biology, University of Gdansk, Gdansk, Poland
    Mol Genet Metab 105:237-43. 2012
  10. doi Mucopolysaccharidosis type II in females and response to enzyme replacement therapy
    Agnieszka Jurecka
    Department of Metabolic Diseases, The Children s Memorial Health Institute, Warsaw, Polandd
    Am J Med Genet A 158:450-4. 2012

Collaborators

Detail Information

Publications18

  1. doi 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...
  2. doi Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient
    Agnieszka Jurecka
    Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
    J Inherit Metab Dis 33:S21-4. 2010
    ..This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis...
  3. doi Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene
    Agnieszka Jurecka
    Department of Molecular Biology, University of Gdansk, Gdansk, Poland
    Am J Med Genet A 161:1291-9. 2013
    ..Patients homozygous for the p.R152W mutation present a cardiac variant of MPS VI characterized by progressive cardiac valve disease leading to serious cardiac complications including abrupt death due to cardiac failure...
  4. doi Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy
    Agnieszka Jurecka
    Department of Metabolic Diseases, The Children s Memorial Health Institute, Warsaw, Poland
    Pediatr Neurosurg 48:191-8. 2012
    ....
  5. doi Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up
    Agnieszka Jurecka
    Department of Metabolic Diseases, Children s Memorial Health Institute, Warsaw, Poland
    Pediatr Neurol 47:461-5. 2012
    ..The only benefit involved temporarily improved passive and active shoulder flexion. Overall, the benefit of enzyme replacement therapy with laronidase on Scheie syndrome appeared minimal...
  6. doi Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature
    Agnieszka Jurecka
    Department of Medical Genetics, The Children s Memorial Health Institute, Warsaw, Poland
    Mol Genet Metab 107:508-12. 2012
    ..3. Once started, it is essential to keep an adequate administration schedule of ERT to maintain the clinical benefits of enzyme therapy...
  7. doi Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency
    Agnieszka Jurecka
    Metabolic Diseases Clinic, The Children s Memorial Health Institute, Warsaw, Poland
    J Child Neurol 27:645-9. 2012
    ..In conclusion, a ketogenic diet could be considered a valid therapeutic option in patients with intractable seizures in a course of adenylosuccinate lyase deficiency; however, it requires a formal study...
  8. doi Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype
    Agnieszka Jurecka
    Metabolic Diseases Clinic, The Children s Memorial Health Institute, Warsaw, Poland
    Mol Genet Metab 104:695-9. 2011
    ..Despite the common pharmacologic treatment and implementation of enzyme replacement therapy with galsulfase the patient died at the age of 38 years because of decompensation of chronic heart failure...
  9. doi Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia
    Agnieszka Jurecka
    Department of Molecular Biology, University of Gdansk, Gdansk, Poland
    Mol Genet Metab 105:237-43. 2012
    ..Our study has also provided evidence to support genotype-phenotype correlation...
  10. doi Mucopolysaccharidosis type II in females and response to enzyme replacement therapy
    Agnieszka Jurecka
    Department of Metabolic Diseases, The Children s Memorial Health Institute, Warsaw, Polandd
    Am J Med Genet A 158:450-4. 2012
    ..Enzyme replacement therapy (ERT) in these two females resulted in disease stabilization in both...
  11. ncbi [Inborn errors of purine and pyrimidyne metabolism]
    Agnieszka Jurecka
    Katedra Biologii Molekularnej, Uniwersytet Gdanski, Gdansk
    Postepy Biochem 57:172-82. 2011
    ..It is necessary to improve the education among physicians as well as to popularize screening methods for these defects...
  12. doi Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature
    Agnieszka Jurecka
    The Children s Memorial Health Institute, Al Dzieci Polskich 20, Warsaw, Poland
    Eur J Pediatr 171:131-8. 2012
    ..Greater awareness of adenylosuccinate lyase deficiency among general pediatricians, neonatologists, pediatric neurologists, and also radiologists is the key to identifying the disorder at an early stage...
  13. doi Inborn errors of purine and pyrimidine metabolism
    A Jurecka
    Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730, Warsaw, Poland
    J Inherit Metab Dis 32:247-63. 2009
    ....
  14. doi Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations
    A Jurecka
    Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730, Warsaw, Poland
    J Inherit Metab Dis 31:S447-51. 2008
    ..All mutations, except c.508C>T (p.Arg170Ter), were found in single families only, indicating the lack of any common mutation causing HPRT deficiency in Poland...
  15. doi D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect
    A Jurecka
    Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730, Warsaw, Poland
    J Inherit Metab Dis 31:S329-32. 2008
    ..Additionally, patients with milder type II presented the first seizure after 4 and 8 months of the D-ribose treatment. Therefore, we could not confirm a positive effect of D-ribose as previously reported...
  16. doi Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up
    A Tylki-Szymanska
    Metabolic Diseases Clinic, The Children s Memorial Health Institute, Warsaw, Poland
    Acta Paediatr 101:e42-7. 2012
    ..We present a 3-year follow-up of a boy with mucopolysaccharidosis type II (MPS II) who had idursulfase therapy initiated at the age of 3 months and compare his clinical course to his healthy twin brother...
  17. ncbi Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency
    J Sykut-Cegielska
    Division of Metabolic Diseases, Department of Paediatrics, The Children s Memorial Health Institute, 04 736 Warsaw, Al Dzieci Polskich 20, Poland
    J Inherit Metab Dis 28:1153-4. 2005
    ..We report a 3-year-old boy with glutathione synthetase deficiency, who in the newborn period developed severe persistent haemolytic anaemia. Treatment with erythropoietin was introduced with good clinical and haematological response...
  18. ncbi [Infections of the male urogenital tract and the problem of infertility in the couple]
    Piotr Buchacz
    Z Katedry i Oddziału Klinicznego Ginekologii i Połoznictwa w Tychach
    Wiad Lek 57:29-33. 2004
    ..The positive results of sperm bacteriological investigations were found in normospermic patients too...