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Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
Rutkowska L, Pinkier I, Sałacińska K, Kępczyński Ł, Salachna D, Lewek J, Banach M, Matusik P, Starostecka E, Lewiński A, Płoski R, Stawiński P, Gach A. Rutkowska L, et al. Among authors: starostecka e. Genes (Basel). 2022 Aug 10;13(8):1424. doi: 10.3390/genes13081424. Genes (Basel). 2022. PMID: 36011335 Free PMC article.
"Apple does not fall far from the tree" - subclinical atherosclerosis in children with familial hypercholesterolemia.
Podgórski M, Szatko K, Stańczyk M, Pawlak-Bratkowska M, Konopka A, Starostecka E, Tkaczyk M, Góreczny S, Rutkowska L, Gach A, Łukaszewski M, Grzelak P, Banach M. Podgórski M, et al. Among authors: starostecka e. Lipids Health Dis. 2020 Jul 14;19(1):169. doi: 10.1186/s12944-020-01335-2. Lipids Health Dis. 2020. PMID: 32664969 Free PMC article.
Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria.
Bik-Multanowski M, Madetko-Talowska A, Betka I, Swieczka E, Didycz B, Orchel-Szastak K, Bik-Multanowska K, Starostecka E, Jaglowska J, Mozrzymas R, Zolkowska J, Chyz K, Korycinska-Chaaban D. Bik-Multanowski M, et al. Among authors: starostecka e. Mol Genet Metab Rep. 2020 Aug 21;25:100640. doi: 10.1016/j.ymgmr.2020.100640. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 32874918 Free PMC article.
The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland-The Results of a National Online Survey.
Walkowiak D, Mikołuć B, Mozrzymas R, Kałużny Ł, Didycz B, Korycińska-Chaaban D, Patalan M, Jagłowska J, Chrobot A, Starostecka E, Zarębska J, Walkowiak J. Walkowiak D, et al. Among authors: starostecka e. Int J Environ Res Public Health. 2021 Jun 13;18(12):6399. doi: 10.3390/ijerph18126399. Int J Environ Res Public Health. 2021. PMID: 34199184 Free PMC article.
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
Bik-Multanowski M, Kaluzny L, Mozrzymas R, Oltarzewski M, Starostecka E, Lange A, Didycz B, Gizewska M, Ulewicz-Filipowicz J, Chrobot A, Mikoluc B, Szymczakiewicz-Multanowska A, Cichy W, Pietrzyk JJ. Bik-Multanowski M, et al. Among authors: starostecka e. Acta Biochim Pol. 2013;60(4):613-6. Epub 2013 Dec 17. Acta Biochim Pol. 2013. PMID: 24350308
Helicobacter pylori Infection in Children with Phenylketonuria Does Not Depend on Metabolic Control and Is Not More Frequent Than in Healthy Subjects-A Cross-Sectional Study.
Walkowiak M, Kałużny Ł, Mozrzymas R, Jamka M, Mikołuć B, Jagłowska J, Starostecka E, Nurgaliyeva R, Walkowiak J, Lisowska A. Walkowiak M, et al. Among authors: starostecka e. Children (Basel). 2021 Aug 19;8(8):713. doi: 10.3390/children8080713. Children (Basel). 2021. PMID: 34438604 Free PMC article.
Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II.
Bik-Multanowski M, Jamroz E, Kaluzny L, Pronicka E, Rokicki D, Starostecka E, Sykut-Cegielska J, Walczak M. Bik-Multanowski M, et al. Among authors: starostecka e. Mol Genet Metab Rep. 2015 Dec 18;6:5-7. doi: 10.1016/j.ymgmr.2015.12.002. eCollection 2016 Mar. Mol Genet Metab Rep. 2015. PMID: 27014570 Free PMC article. No abstract available.
17 results