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Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Southern KW, Castellani C, Lammertyn E, Smyth A, VanDevanter D, van Koningsbruggen-Rietschel S, Barben J, Bevan A, Brokaar E, Collins S, Connett GJ, Daniels TWV, Davies J, Declercq D, Gartner S, Gramegna A, Hamilton N, Hauser J, Kashirskaya N, Kessler L, Lowdon J, Makukh H, Martin C, Morrison L, Nazareth D, Noordhoek J, O'Neill C, Owen E, Oxley H, Raraigh KS, Raynal C, Robinson K, Roehmel J, Schwarz C, Sermet I, Shteinberg M, Sinha I, Takawira C, van Mourik P, Verkleij M, Waller MD, Duff A. Southern KW, et al. Among authors: makukh h. J Cyst Fibros. 2023 Jan;22(1):17-30. doi: 10.1016/j.jcf.2022.10.002. Epub 2022 Oct 28. J Cyst Fibros. 2023. PMID: 36916675 Free article.
SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.
Bondarenko M, Haiboniuk I, Solovei I, Shargorodska Y, Makukh H. Bondarenko M, et al. Among authors: makukh h. Balkan J Med Genet. 2023 May 2;25(2):83-90. doi: 10.2478/bjmg-2022-0018. eCollection 2023 May. Balkan J Med Genet. 2023. PMID: 37265969 Free PMC article.
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.
Dorosh O, Bodak K, Tsymbalyuk-Voloshyn I, Makukh H, Kreminska O, Hrytsiuk I, Battisti L, Erlacher M, Wlodarski M, McGlacken-Byrne SM, Achermann JC, Niemeyer CM, Yoshimi A. Dorosh O, et al. Among authors: makukh h. Pediatr Blood Cancer. 2024 Nov;71(11):e31294. doi: 10.1002/pbc.31294. Epub 2024 Aug 27. Pediatr Blood Cancer. 2024. PMID: 39192712 No abstract available.
Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.
Boyarchuk O, Kostyuchenko L, Akopyan H, Bondarenko A, Volokha A, Hilfanova A, Savchak I, Nazarenko L, Yarema N, Urbas O, Hrabovska I, Lysytsia O, Budzyn A, Tykholaz O, Ivanchuk M, Bastanohova O, Patskun E, Vasylenko N, Stepanovskyy Y, Chernyshova L, Makukh H. Boyarchuk O, et al. Among authors: makukh h. Front Immunol. 2024 Jun 28;15:1428724. doi: 10.3389/fimmu.2024.1428724. eCollection 2024. Front Immunol. 2024. PMID: 39007137 Free PMC article.
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe.
Jung A, Orenti A, Dunlevy F, Aleksejeva E, Bakkeheim E, Bobrovnichy V, Carr SB, Colombo C, Corvol H, Cosgriff R, Daneau G, Dogru D, Drevinek P, Vukic AD, Fajac I, Fox A, Fustik S, Gulmans V, Harutyunyan S, Hatziagorou E, Kasmi I, Kayserová H, Kondratyeva E, Krivec U, Makukh H, Malakauskas K, McKone EF, Mei-Zahav M, de Monestrol I, Olesen HV, Padoan R, Parulava T, Pastor-Vivero MD, Pereira L, Petrova G, Pfleger A, Pop L, van Rens JG, Rodic M, Schlesser M, Storms V, Turcu O, Woz Niacki L, Yiallouros P, Zolin A, Downey DG, Naehrlich L. Jung A, et al. Among authors: makukh h. ERJ Open Res. 2021 Dec 27;7(4):00411-2021. doi: 10.1183/23120541.00411-2021. eCollection 2021 Oct. ERJ Open Res. 2021. PMID: 34984210 Free PMC article.
34 results