A Jurecka

Summary

Publications

  1. Jurecka A, Zikanova M, Tylki Szymanska A, Krijt J, Bogdanska A, Gradowska W, et al. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol Genet Metab. 2008;94:435-42 pubmed publisher
    ..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. Jurecka A, Popowska E, Tylki Szymanska A, Kubalska J, Ciara E, Krumina Z, et al. Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations. J Inherit Metab Dis. 2008;31 Suppl 2:S447-51 pubmed publisher
    ..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. ..
  3. Jurecka A, Jurkiewicz E, Tylki Szymanska A. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. Eur J Pediatr. 2012;171:131-8 pubmed publisher
    ..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. ..
  4. Jurecka A, Golda A, Opoka Winiarska V, Piotrowska E, Tylki Szymanska A. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. Mol Genet Metab. 2011;104:695-9 pubmed publisher
    ..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. ..

Detail Information

Publications4

  1. Jurecka A, Zikanova M, Tylki Szymanska A, Krijt J, Bogdanska A, Gradowska W, et al. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol Genet Metab. 2008;94:435-42 pubmed publisher
    ..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. Jurecka A, Popowska E, Tylki Szymanska A, Kubalska J, Ciara E, Krumina Z, et al. Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations. J Inherit Metab Dis. 2008;31 Suppl 2:S447-51 pubmed publisher
    ..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. ..
  3. Jurecka A, Jurkiewicz E, Tylki Szymanska A. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. Eur J Pediatr. 2012;171:131-8 pubmed publisher
    ..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. ..
  4. Jurecka A, Golda A, Opoka Winiarska V, Piotrowska E, Tylki Szymanska A. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. Mol Genet Metab. 2011;104:695-9 pubmed publisher
    ..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. ..