Maciej Pronicki

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

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

Marek Böhm, Ewa Pronicka, Elżbieta Karczmarewicz et al. · Pediatric Research · 2005 · 109 citations · Full text

Life Sciences, Child Health, Pediatrics +3

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

Magdalena Lebiedzińska, Agnieszka Karkucińska‐Więckowska, Carlotta Giorgi et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2010 · 78 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

Cytokeratin-18 and hyaluronic acid levels predict liver fibrosis in children with non-alcoholic fatty liver disease.

Dariusz Lebensztejn, Aldona Wierzbicka, Piotr Socha et al. · Acta Biochimica Polonica · 2011 · 71 citations · Full text

Medicine, Pathology, Pediatrics +17

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Katharina Danhauser, Bader Alhaddad, Christine Makowski et al. · The American Journal of Human Genetics · 2018 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16