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Page 1
Hypomagnesemia is underestimated in children with HNF1B mutations.
Pediatr Nephrol. 2020 Oct;35(10):1877-1886. doi: 10.1007/s00467-020-04576-6. Epub 2020 May 10.
Pediatr Nephrol. 2020.
PMID: 32388583
Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited.
Kołbuc M, Bieniaś B, Habbig S, Kołek MF, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Motyka R, Tkaczyk M, Sikora P, Beck BB, Zaniew M.
Kołbuc M, et al.
J Clin Med. 2021 Jul 24;10(15):3265. doi: 10.3390/jcm10153265.
J Clin Med. 2021.
PMID: 34362049
Free PMC article.
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Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Kołbuc M, Kołek MF, Motyka R, Bieniaś B, Habbig S, Burgmaier K, Prikhodina L, Papizh S, Tasic V, Okorn C, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Tkaczyk M, Pańczyk-Tomaszewska M, Miklaszewska M, Pawlaczyk K, Bukowska-Olech E, Jamsheer A, Jankauskiene A, König J, Cheong HI, Ahn YH, Kaspar S, Sikora P, Beck BB, Zaniew M.
Kołbuc M, et al.
Pediatr Nephrol. 2024 Jun;39(6):1847-1858. doi: 10.1007/s00467-023-06262-9. Epub 2024 Jan 10.
Pediatr Nephrol. 2024.
PMID: 38196016
Free PMC article.
Clinical Trial.
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Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M, Bökenkamp A, Kolbuc M, La Scola C, Baronio F, Niemirska A, Szczepanska M, Bürger J, La Manna A, Miklaszewska M, Rogowska-Kalisz A, Gellermann J, Zampetoglou A, Wasilewska A, Roszak M, Moczko J, Krzemien A, Runowski D, Siten G, Zaluska-Lesniewska I, Fonduli P, Zurrida F, Paglialonga F, Gucev Z, Paripovic D, Rus R, Said-Conti V, Sartz L, Chung WY, Park SJ, Lee JW, Park YH, Ahn YH, Sikora P, Stefanidis CJ, Tasic V, Konrad M, Anglani F, Addis M, Cheong HI, Ludwig M, Bockenhauer D.
Zaniew M, et al. Among authors: kolbuc m.
Nephrol Dial Transplant. 2018 Jan 1;33(1):85-94. doi: 10.1093/ndt/gfw350.
Nephrol Dial Transplant. 2018.
PMID: 27708066
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Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland.
Motyka R, Kołbuc M, Wierzchołowski W, Beck BB, Towpik IE, Zaniew M.
Motyka R, et al. Among authors: kolbuc m.
Am J Case Rep. 2021 Feb 2;22:e928994. doi: 10.12659/AJCR.928994.
Am J Case Rep. 2021.
PMID: 33526762
Free PMC article.
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