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Page 1
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.
Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M. Bockenhauer D, et al. Among authors: ludwig m. Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6. doi: 10.2215/CJN.00520108. Epub 2008 May 14. Clin J Am Soc Nephrol. 2008. PMID: 18480301 Free PMC article.
Dent-2 disease: a mild variant of Lowe syndrome.
Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M. Bökenkamp A, et al. Among authors: ludwig m. J Pediatr. 2009 Jul;155(1):94-9. doi: 10.1016/j.jpeds.2009.01.049. J Pediatr. 2009. PMID: 19559295
Disorders of the renal proximal tubule.
Bökenkamp A, Ludwig M. Bökenkamp A, et al. Among authors: ludwig m. Nephron Physiol. 2011;118(1):p1-6. doi: 10.1159/000320880. Epub 2010 Nov 11. Nephron Physiol. 2011. PMID: 21071982 Review.
Clinical utility gene card for: Lowe syndrome.
Bökenkamp A, Levtchenko E, Recker F, Ludwig M. Bökenkamp A, et al. Among authors: ludwig m. Eur J Hum Genet. 2015 Jun;23(6):889-. doi: 10.1038/ejhg.2014.177. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182134 Free PMC article. No abstract available.
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M. Recker F, et al. Among authors: ludwig m. Pediatr Nephrol. 2015 Jun;30(6):931-43. doi: 10.1007/s00467-014-3013-2. Epub 2014 Dec 6. Pediatr Nephrol. 2015. PMID: 25480730
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M. Bökenkamp A, et al. Among authors: ludwig m. Pediatr Nephrol. 2016 Dec;31(12):2201-2212. doi: 10.1007/s00467-016-3343-3. Epub 2016 Mar 24. Pediatr Nephrol. 2016. PMID: 27011217 Free PMC article. Review.
Novel OCRL mutations in patients with Dent-2 disease.
Böckenhauer D, Bökenkamp A, Nuutinen M, Unwin R, Van't Hoff W, Sirimanna T, Vrljicak K, Ludwig M. Böckenhauer D, et al. Among authors: ludwig m. J Pediatr Genet. 2012 Mar;1(1):15-23. doi: 10.3233/PGE-2012-005. J Pediatr Genet. 2012. PMID: 27625797 Free PMC article.
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M, Bökenkamp A, Kolbuc M, La Scola C, Baronio F, Niemirska A, Szczepanska M, Bürger J, La Manna A, Miklaszewska M, Rogowska-Kalisz A, Gellermann J, Zampetoglou A, Wasilewska A, Roszak M, Moczko J, Krzemien A, Runowski D, Siten G, Zaluska-Lesniewska I, Fonduli P, Zurrida F, Paglialonga F, Gucev Z, Paripovic D, Rus R, Said-Conti V, Sartz L, Chung WY, Park SJ, Lee JW, Park YH, Ahn YH, Sikora P, Stefanidis CJ, Tasic V, Konrad M, Anglani F, Addis M, Cheong HI, Ludwig M, Bockenhauer D. Zaniew M, et al. Among authors: ludwig m. Nephrol Dial Transplant. 2018 Jan 1;33(1):85-94. doi: 10.1093/ndt/gfw350. Nephrol Dial Transplant. 2018. PMID: 27708066
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M. Utsch B, et al. Among authors: ludwig m. Am J Kidney Dis. 2006 Dec;48(6):942.e1-14. doi: 10.1053/j.ajkd.2006.08.018. Am J Kidney Dis. 2006. PMID: 17162149
Proteinuria in Dent disease: a review of the literature.
van Berkel Y, Ludwig M, van Wijk JAE, Bökenkamp A. van Berkel Y, et al. Among authors: ludwig m. Pediatr Nephrol. 2017 Oct;32(10):1851-1859. doi: 10.1007/s00467-016-3499-x. Epub 2016 Oct 18. Pediatr Nephrol. 2017. PMID: 27757584 Free PMC article. Review.
1,306 results