Paweł Kowalski

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

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 · Full text

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

Maciej Pronicki, Paweł Kowalski, Dorota Piekutowska‐Abramczuk et al. · European Journal of Paediatric Neurology · 2009 · 33 citations

Rare Diseases, Genetic Disorder, Medicine +8

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

Elżbieta Ciara, Ewa Popowska, Dorota Piekutowska‐Abramczuk et al. · European Journal of Medical Genetics · 2006 · 29 citations

Genetics, Val326leu Dhcr7 Mutations, Molecular Biology +3

Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway

Aleksandra Wojtala, Agnieszka Karkucińska‐Więckowska, Vilma A. Sardão et al. · Mitochondrion · 2017 · 22 citations

Biochemistry, Mitochondrial Function, Mitochondrial Dynamic +9