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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: habbig s. 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.
The case: A boy with recurrent stones.
Beck BB, Laube N, Habbig S, Feldkötter M, Fries JW, Hoppe B. Beck BB, et al. Among authors: habbig s. Kidney Int. 2008 Jul;74(1):133-4. doi: 10.1038/ki.2008.165. Kidney Int. 2008. PMID: 18560364 Free article. No abstract available.
Nephrocalcinosis and urolithiasis in children.
Habbig S, Beck BB, Hoppe B. Habbig S, et al. Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28. Kidney Int. 2011. PMID: 21956187 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. Among authors: habbig s. 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.
79 results