New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centreEwa Pronicka, Rafał Płoski, Dorota Piekutowska‐Abramczuk et al.|Journal of Translational Medicine|2016Cited by 233
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Joy Yaplito‐Lee, Felix Distelmaier et al.|Journal of Inherited Metabolic Disease|2017Cited by 35
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencingElżbieta Ciara, Ewa Pronicka, Dariusz Rokicki et al.|Molecular Genetics and Metabolism Reports|2016Cited by 32
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndromeAgnieszka Karkucińska‐Więckowska, Ewa Pronicka, Joanna Trubicka et al.|Journal of Inherited Metabolic Disease|2013Cited by 27
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric AciduriaEdyta Szymańska, Anna Tylki‐Szymańska, Aleksandra Jezela‐Stanek et al.|Diagnostics|2020Cited by 20