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Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
Martinez-Turrillas R, Rodriguez-Diaz S, Rodriguez-Marquez P, Martin-Mallo A, Salido E, Beck BB, Prosper F, Rodriguez-Madoz JR. Martinez-Turrillas R, et al. Among authors: beck bb. Stem Cell Res. 2019 Dec;41:101626. doi: 10.1016/j.scr.2019.101626. Epub 2019 Oct 18. Stem Cell Res. 2019. PMID: 31715429 Free article.
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope. Cochat P, et al. Nephrol Dial Transplant. 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078. Nephrol Dial Transplant. 2012. PMID: 22547750 Free article.
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B. Beck BB, et al. Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781098 Free PMC article.
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, Beck BB. Wenzel A, et al. Among authors: beck bb. Sci Rep. 2018 Mar 8;8(1):4170. doi: 10.1038/s41598-018-22428-0. Sci Rep. 2018. PMID: 29520014 Free PMC article.
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Garrelfs SF, Rumsby G, Peters-Sengers H, Erger F, Groothoff JW, Beck BB, Oosterveld MJS, Pelle A, Neuhaus T, Adams B, Cochat P, Salido E, Lipkin GW, Hoppe B, Hulton SA; OxalEurope Consortium. Garrelfs SF, et al. Among authors: beck bb. Kidney Int. 2019 Dec;96(6):1389-1399. doi: 10.1016/j.kint.2019.08.018. Epub 2019 Sep 3. Kidney Int. 2019. PMID: 31685312 Free article.
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.
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Deesker LJ, Garrelfs SF, Mandrile G, Oosterveld MJS, Cochat P, Deschênes G, Harambat J, Hulton SA, Gupta A, Hoppe B, Beck BB, Collard L, Topaloglu R, Prikhodina L, Salido E, Neuhaus T, Groothoff JW, Bacchetta J. Deesker LJ, et al. Among authors: beck bb. Kidney Int Rep. 2022 Apr 20;7(7):1608-1618. doi: 10.1016/j.ekir.2022.04.012. eCollection 2022 Jul. Kidney Int Rep. 2022. PMID: 35812297 Free PMC article.
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL, Garrelfs SF, Deesker LJ, Acquaviva C, D'Ambrosio V, Bacchetta J, Beck BB, Cochat P, Collard L, Hogan J, Ferraro PM, Franssen CFM, Harambat J, Hulton SA, Lipkin GW, Mandrile G, Martin-Higueras C, Mohebbi N, Moochhala SH, Neuhaus TJ, Prikhodina L, Salido E, Topaloglu R, Oosterveld MJS, Groothoff JW, Peters-Sengers H. Metry EL, et al. Among authors: beck bb. Kidney Int Rep. 2023 Aug 4;8(10):2029-2042. doi: 10.1016/j.ekir.2023.07.025. eCollection 2023 Oct. Kidney Int Rep. 2023. PMID: 37849991 Free PMC article.
135 results