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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: bednarska makaruk m. Diagnostics (Basel). 2021 Feb 16;11(2):320. doi: 10.3390/diagnostics11020320. Diagnostics (Basel). 2021. PMID: 33669444 Free PMC article.
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann-Pick C disease.
Hetmańczyk-Sawicka K, Iwanicka-Nowicka R, Fogtman A, Cieśla J, Włodarski P, Żyżyńska-Granica B, Filocamo M, Dardis A, Peruzzo P, Bednarska-Makaruk M, Koblowska M, Ługowska A. Hetmańczyk-Sawicka K, et al. Among authors: bednarska makaruk m. Neurogenetics. 2020 Apr;21(2):105-119. doi: 10.1007/s10048-019-00600-6. Epub 2020 Jan 11. Neurogenetics. 2020. PMID: 31927669
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.
Ługowska A, Purzycka-Olewiecka JK, Płoski R, Truszkowska G, Pronicki M, Felczak P, Śpiewak M, Podlecka-Piętowska A, Sitek M, Bilińska ZT, Leszek P, Bednarska-Makaruk M. Ługowska A, et al. Among authors: bednarska makaruk m. Life (Basel). 2021 Dec 21;12(1):3. doi: 10.3390/life12010003. Life (Basel). 2021. PMID: 35054396 Free PMC article.
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Piekutowska-Abramczuk D, Rutyna R, Czyżyk E, Jurkiewicz E, Iwanicka-Pronicka K, Rokicki D, Stachowicz S, Strzemecka J, Guz W, Gawroński M, Kosierb A, Ligas J, Puchala M, Drelich-Zbroja A, Bednarska-Makaruk M, Dąbrowski W, Ciara E, Książyk JB, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: bednarska makaruk m. Metab Brain Dis. 2018 Feb;33(1):191-199. doi: 10.1007/s11011-017-0122-1. Epub 2017 Nov 7. Metab Brain Dis. 2018. PMID: 29116603 Free PMC article.
43 results