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Year Number of Results
1967 1
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1973 2
1974 1
1980 1
1998 1
1999 3
2001 1
2003 1
2004 1
2005 1
2006 1
2007 2
2008 2
2009 5
2010 3
2011 5
2012 5
2013 7
2014 6
2015 5
2016 7
2017 9
2018 10
2019 7
2020 8
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122 results

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Page 1
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J. Groothoff JW, et al. Among authors: beck bb. Nat Rev Nephrol. 2023 Mar;19(3):194-211. doi: 10.1038/s41581-022-00661-1. Epub 2023 Jan 5. Nat Rev Nephrol. 2023. PMID: 36604599 Review.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
The primary hyperoxalurias.
Hoppe B, Beck BB, Milliner DS. Hoppe B, et al. Among authors: beck bb. Kidney Int. 2009 Jun;75(12):1264-1271. doi: 10.1038/ki.2009.32. Epub 2009 Feb 18. Kidney Int. 2009. PMID: 19225556 Free PMC article. Review.
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
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH, Wenzel A, Erger F, Middelmann L, Borde J, Hahnen E, Krauß D, Oehm S, Arjune S, Todorova P, Burgmaier K, Liebau MC, Grundmann F, Beck BB, Müller RU. Lindemann CH, et al. Among authors: beck bb. Kidney Int Rep. 2022 Dec 28;8(3):455-466. doi: 10.1016/j.ekir.2022.12.025. eCollection 2023 Mar. Kidney Int Rep. 2022. PMID: 36938073 Free PMC article.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: beck bb. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. Schlingmann KP, et al. Among authors: beck bb. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4. J Am Soc Nephrol. 2021. PMID: 34607910 Free PMC article.
Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition.
Kaufeld JK, Kühne L, Schönermarck U, Bräsen JH, von Kaisenberg C, Beck BB, Erger F, Bergmann C, von Bergwelt-Baildon ANKE, Brinkkötter PT, Völker LA, Menne J. Kaufeld JK, et al. Among authors: beck bb. Kidney Int Rep. 2024 Jan 23;9(4):919-928. doi: 10.1016/j.ekir.2024.01.035. eCollection 2024 Apr. Kidney Int Rep. 2024. PMID: 38765599 Free PMC article.
Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.
Martin-Higueras C, Borghese L, Torres A, Fraga-Bilbao F, Santana-Estupiñán R, Stefanidis CJ, Tory K, Walli A, Gondra L, Kempf C, Gessner M, Habbig S, Eifler L, Schmitt CP, Rüdel B, Bartram MP, Beck BB, Hoppe B. Martin-Higueras C, et al. Among authors: beck bb. Kidney Int Rep. 2023 Oct 6;9(1):114-133. doi: 10.1016/j.ekir.2023.10.004. eCollection 2024 Jan. Kidney Int Rep. 2023. PMID: 38312792 Free PMC article.
122 results