Wybrane Publikacje
Wybrane publikacje związane z działalnością Pracowni Rzadkich Chorób Metabolicznych (PRCM):
1. COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases-Organizational Challenges from the Point of View of Healthcare Providers.. Tobór-Świętek E, Sykut-Cegielska J, Bik-Multanowski M, Walczak M, Rokicki D, Kałużny Ł, Wierzba J, Pac M, Jahnz-Różyk K, Więsik-Szewczyk E, Kieć-Wilk B. J Clin Med. 2021 Oct 22;10(21):4862. doi: 10.3390/jcm10214862.
2. Gene expression with corresponding pathways analysis in Gaucher disease. Pawliński Ł, Polus A, Kałużna M, Sordyl M, Tobór-Świętek E, Krawczyk M, Bednarek M, Solnica B, Ruchała M, Kieć-Wilk B.Exp Mol Pathol. 2021 Sep 2:104679. doi: 10.1016/j.yexmp.2021.104679.
3. Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey. Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M.Front Med (Lausanne). 2021 Feb 25;8:652358. doi: 10.3389/fmed.2021.652358. eCollection 2021.PMID: 33738294
4. Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data. Istaiti M, Revel-Vilk S, Becker-Cohen M, Dinur T, Ramaswami U, Castillo-Garcia D, Ceron-Rodriguez M, Chan A, Rodic P, Tincheva RS, Al-Hertani W, Lee BH, Yang CF, Kiec-Wilk B, Fiumara A, Rubio B, Zimran A. Am J Hematol. 2021 May 1;96(5):545-551. doi: 10.1002/ajh.26131.
5. BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype. Bednarek M, Trybus M, Kolanowska M, Koziej M, Kiec-Wilk B, Dobosz A, Kotlarek-Łysakowska M, Kubiak-Dydo A, Użarowska-Gąska E, Staręga-Rosłan J, Gaj P, Górzyńska I, Serwan K, Świerniak M, Kot A, Jażdżewski K, Wójcicka A. Mol Genet Genomic Med. 2021 Mar;9(3):e1594. doi: 10.1002/mgg3.1594
6. Proteomic biomarkers in Gaucher disease. Pawliński Ł, Tobór E, Suski M, Biela M, Polus A, Kieć-Wilk B.J Clin Pathol. 2021 Jan;74(1):25-29. doi: 10.1136/jclinpath-2020-206580.
7. MiRNA Expression in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy. Pawliński Ł, Polus A, Tobór E, Sordyl M, Kopka M, Solnica B, Kieć-Wilk B.Life (Basel). 2020 Dec 22;11(1):2. doi: 10.3390/life11010002.
8. DNA methylation microarrays identify epigenetically regulated lipid related genes in obese patients with hypercholesterolemia. Płatek T, Polus A, Góralska J, Raźny U, Gruca A, Kieć-Wilk B, Zabielski P, Kapusta M, Słowińska-Solnica K, Solnica B, Malczewska-Malec M, Dembińska-Kieć A. Mol Med. 2020 Oct 7;26(1):93. doi: 10.1186/s10020-020-00220-z.
9. Case report of endoprosthesis -Y implantation in severe respiratory failure in the MPSII patient; comparison with literature data. Gocyk W, Warmus J, Olechnowicz H, Bik-Multanowski M, Pawlinski L, Kiec-Wilk B.BMC Pulm Med. 2020 Apr 20;20(1):99. doi: 10.1186/s12890-020-1143-9.
10. Dual-action ambroxol in treatment of chronic pain in Gaucher Disease. Pawlinski L, Krawczyk M, Fiema M, Tobor E, Kiec-Wilk B.Eur J Pain. 2020 May;24(5):992-996.
