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98 results
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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. Among authors: beck bb. J Clin Med. 2021 Jul 24;10(15):3265. doi: 10.3390/jcm10153265. J Clin Med. 2021. PMID: 34362049 Free PMC article.
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Birtel J, Spital G, Book M, Habbig S, Bäumner S, Riehmer V, Beck BB, Rosenkranz D, Bolz HJ, Dahmer-Heath M, Herrmann P, König J, Charbel Issa P. Birtel J, et al. Among authors: beck bb. Kidney Int. 2021 Jun 19:S0085-2538(21)00600-1. doi: 10.1016/j.kint.2021.06.012. Online ahead of print. Kidney Int. 2021. PMID: 34153329
A new era of treatment for primary hyperoxaluria type 1.
Erger F, Beck BB. Erger F, et al. Among authors: beck bb. Nat Rev Nephrol. 2021 Sep;17(9):573-574. doi: 10.1038/s41581-021-00449-9. Nat Rev Nephrol. 2021. PMID: 34113016 No abstract available.
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.
Fabretti F, Tschernoster N, Erger F, Hedergott A, Buescher AK, Dafinger C, Reusch B, Köntges VK, Kohl S, Bartram MP, Weber LT, Thiele H, Altmueller J, Schermer B, Beck BB, Habbig S. Fabretti F, et al. Among authors: beck bb. Kidney Int Rep. 2021 Jan 29;6(5):1368-1378. doi: 10.1016/j.ekir.2021.01.023. eCollection 2021 May. Kidney Int Rep. 2021. PMID: 34013115 Free PMC article.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: beck bb. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
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