Magdalena Pajdowska

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara et al. · Journal of Translational Medicine · 2016 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 74 citations · Full text

Life Sciences, Genetics, Neurology +17

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, Anna Węglewska-Jurkiewicz, Joanna Taybert et al. · Journal of Applied Genetics · 2010 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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, Anna Węglewska-Jurkiewicz, Maciej Pronicki et al. · Medical Science Monitor · 2011 · 40 citations

Medicine, Neurology, Pharmacology +17

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, Wanda Gradowska, Dorota Piekutowska‐Abramczuk et al. · Journal of Inherited Metabolic Disease · 2010 · 38 citations

Life Sciences, Biochemistry, Clinical Biochemistry +15