SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutationsElżbieta Ciara, Małgorzata Krajewska‐Walasek, Ewa Popowska et al.|European Journal of Medical Genetics|2006Cited by 30
Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosisDorota Wesół‐Kucharska, Dariusz Rokicki, Paweł Kowalski et al.|Molecular Genetics and Metabolism Reports|2021Cited by 16
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohortDorota Piekutowska‐Abramczuk, Ewa Pronicka, Magdalena Kaliszewska et al.|Mitochondrion|2018Cited by 11
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial DysfunctionDorota Piekutowska‐Abramczuk, Ewa Pronicka, Beata Kocyła-Karczmarewicz et al.|JIMD Reports|2015Cited by 8
Improvement of cardiomyopathy after ketogenic diet in a patient with Leigh syndrome caused by MTND5 mutationDorota Wesół‐Kucharska, Dariusz Rokicki, Milena Greczan et al.|Research Square|2021Cited by 4