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[Management in familial hypercholesterolaemia in children and adolescents. Position of the Lipid Expert Forum].
Myśliwiec M, Walczak M, Małecka-Tendera E, Dobrzańska A, Cybulska B, Filipiak KJ, Mazur A, Jarosz-Chobot P, Szadkowska A, Rynkiewicz A, Chybicka A, Socha P, Brandt A, Kubalska J, Bautembach-Minkowska J, Limon J, Zdrojewski T, Limon J, Banach M; Lipid Expert Forum. Myśliwiec M, et al. Among authors: kubalska j. Kardiol Pol. 2013;71(10):1099-105. doi: 10.5603/KP.2013.0276. Kardiol Pol. 2013. PMID: 24197602 Free article. Polish. No abstract available.
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency.
Giżewska M, Hnatyszyn G, Sagan L, Cyryłowski L, Zekanowski C, Modrzejewska M, Nestorowicz B, Kubalska J, Walczak M. Giżewska M, et al. Among authors: kubalska j. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S83-9. doi: 10.1007/s10545-009-1073-4. Epub 2009 Mar 30. J Inherit Metab Dis. 2009. PMID: 19322676
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Radziwonik-Fraczyk W, Elert-Dobkowska E, Karpinski M, Pilch J, Ziora-Jakutowicz K, Kubalska J, Szczesniak D, Stepniak I, Zaremba J, Sulek A. Radziwonik-Fraczyk W, et al. Among authors: kubalska j. Neurogenetics. 2024 Jul;25(3):233-247. doi: 10.1007/s10048-024-00762-y. Epub 2024 May 17. Neurogenetics. 2024. PMID: 38758368 Free PMC article.
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Ługowska A, Baydakova G, Ilyushkina A, Zakharova E, Mierzewska H, Szymańska K, Wierzba J, Kubalska J, Graban A, Kmieć T, Perkowska-Sumiła B, Tylki-Szymańska A, Bednarska-Makaruk M. Ługowska A, et al. Among authors: kubalska j. Diagnostics (Basel). 2021 Feb 16;11(2):320. doi: 10.3390/diagnostics11020320. Diagnostics (Basel). 2021. PMID: 33669444 Free PMC article.
WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J. Sulek A, et al. Among authors: kubalska j. Neurol Neurochir Pol. 2018 May 17:S0028-3843(18)30152-X. doi: 10.1016/j.pjnns.2018.04.004. Online ahead of print. Neurol Neurochir Pol. 2018. PMID: 29880430 Free article.
38 results