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Page 1
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.
Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA. Hohenfellner K, et al. Among authors: schlingmann kp. Mol Genet Metab. 2022 Aug;136(4):282-288. doi: 10.1016/j.ymgme.2022.06.009. Epub 2022 Jul 1. Mol Genet Metab. 2022. PMID: 35843134 Free PMC article.
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M; NEOCYST consortium. König JC, et al. Among authors: schlingmann kp. Kidney Int Rep. 2022 Jun 16;7(9):2016-2028. doi: 10.1016/j.ekir.2022.05.035. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090483 Free PMC article.
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.
Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D. Ewert A, et al. Among authors: schlingmann kp. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. J Clin Endocrinol Metab. 2023. PMID: 37097907
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.
Tabatabaeifar M, Schlingmann KP, Litwin M, Emre S, Bakkaloglu A, Mehls O, Antignac C, Schaefer F, Weber S; ESCAPE Trial Group. Tabatabaeifar M, et al. Among authors: schlingmann kp. Pediatr Nephrol. 2009 Dec;24(12):2361-8. doi: 10.1007/s00467-009-1287-6. Epub 2009 Aug 14. Pediatr Nephrol. 2009. PMID: 19685083
Vitamin D-dependent Hypercalcemia.
Schlingmann KP. Schlingmann KP. Endocrinol Metab Clin North Am. 2021 Dec;50(4):729-742. doi: 10.1016/j.ecl.2021.08.005. Endocrinol Metab Clin North Am. 2021. PMID: 34774244 Review.
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS. Weber S, et al. Among authors: schlingmann kp. Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007. Am J Hum Genet. 2011. PMID: 22077972 Free PMC article.
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). König J, et al. Among authors: schlingmann kp. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146700 Free PMC article.
Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".
de Baaij JHF, Bockenhauer D, Claverie-Martin F, Hoenderop JGJ, Hoorn EJ, Houillier P, Knoers NVAM, Konrad M, Müller D, Nijenhuis T, Schlingmann KP, Vargas Poussou R. de Baaij JHF, et al. Among authors: schlingmann kp. Eur J Nutr. 2022 Dec;61(8):4231-4233. doi: 10.1007/s00394-022-03004-9. Epub 2022 Sep 27. Eur J Nutr. 2022. PMID: 36168067 No abstract available.
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
Weber S, Mir S, Schlingmann KP, Nürnberg G, Becker C, Kara PE, Ozkayin N, Konrad M, Nürnberg P, Schaefer F. Weber S, et al. Among authors: schlingmann kp. Pediatr Nephrol. 2005 Aug;20(8):1036-42. doi: 10.1007/s00467-005-1977-7. Epub 2005 May 24. Pediatr Nephrol. 2005. PMID: 15912376
69 results