Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysisChristina Hellerud, Ewa Pronicka, Maciej Adamowicz et al.|Molecular Genetics and Metabolism|2003Cited by 18
Management in familial hypercholesterolaemia in children and adolescents. Position of the Lipid Expert ForumMałgorzata Myśliwiec, Maciej Banach, Agnieszka Brandt et al.|Kardiologia Polska|2013Cited by 14
Hypoxanthine‐guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutationsAgnieszka Jurecka, Ewa Pronicka, Ewa Popowska et al.|Journal of Inherited Metabolic Disease|2008Cited by 10
Stanowisko dotyczące postępowania w rodzinnej hipercholesterolemii u dzieci i młodzieży. Stanowisko Forum Ekspertów LipidowychMałgorzata Myśliwiec, Maciej Banach, Mieczysław Walczak et al.|Pediatria Polska|2013Cited by 1
Molecular basis of familial hypercholesterolemia in Poland – update from the Polish national centre of diagnostics and treatment of familial hypercholesterolemiaMagdalena Chmara, Bartosz Wasąg, Monika Żuk et al.|Atherosclerosis|2016Cited by 1