Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort M Zaniew, A Bökenkamp, M Kołbuc, C La Scola, F Baronio, A Niemirska, ... Nephrology Dialysis Transplantation 33 (1), 85-94, 2018 | 52 | 2018 |
Hypomagnesemia is underestimated in children with HNF1B mutations M Kołbuc, L Leßmeier, D Salamon-Słowińska, I Małecka, K Pawlaczyk, ... Pediatric Nephrology 35, 1877-1886, 2020 | 21 | 2020 |
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 … R Motyka, M Kołbuc, W Wierzchołowski, BB Beck, IE Towpik, M Zaniew The American Journal of Case Reports 22, e928994-1, 2021 | 11 | 2021 |
Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited M Kołbuc, B Bieniaś, S Habbig, MF Kołek, M Szczepańska, ... Journal of Clinical Medicine 10 (15), 3265, 2021 | 8 | 2021 |
MO043 HYPERURICEMIA IS RELATIVELY COMMON IN CHILDREN WITH HNF1B MUTATION, BUT ITS UTILITY AS A CLINICALLY USEFUL MARKER FOR PREDICTING THE MUTATION IS LIMITED M Kołbuc, B Bieniaś, S Habbig, M Kołek, M Szczepanska, ... Nephrology Dialysis Transplantation 36 (Supplement_1), gfab080. 0015, 2021 | 2 | 2021 |
Szczepa nska M Kołbuc, B Bienias, S Habbig, MF Kołek Pediatric and Adolescent Nephrology Facing the Future 10, 171, 2021 | 1 | 2021 |
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract M Kołbuc, MF Kołek, R Motyka, B Bieniaś, S Habbig, K Burgmaier, ... Pediatric Nephrology 39 (6), 1847-1858, 2024 | | 2024 |