Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalitiesEdyta Szymańska, Dariusz Rokicki, Sylwia Szymańska et al.|Archives of Medical Science|2018Cited by 33
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutationsElżbieta Ciara, Ewa Pronicka, Edyta Szymańska et al.|Journal of Human Genetics|2018Cited by 26
Tyrosinemia type III in an asymptomatic girlEdyta Szymańska, Anna Tylki‐Szymańska, Małgorzata Średzińska et al.|Molecular Genetics and Metabolism Reports|2015Cited by 20
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
Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2Edyta Szymańska, Anna Tylki‐Szymańska, Dariusz Rokicki et al.|Molecular Genetics and Metabolism Reports|2015Cited by 19