Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiencyAgnieszka 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...
- 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
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- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
[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...
- 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...
- 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
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- 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...
- 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...
- 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...
- 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...
- [Infections of the male urogenital tract and the problem of infertility in the couple]
Piotr Buchacz
Wiad Lek 57:29-33. 2004
..The positive results of sperm bacteriological investigations were found in normospermic patients too...
