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The case | hypercalcemia in a 60-year-old male.
Helmuth A, Konrad M, Schlingmann KP, Pasch A. Helmuth A, et al. Among authors: konrad m. Kidney Int. 2014 Jan;85(1):219-21. doi: 10.1038/ki.2013.184. Kidney Int. 2014. PMID: 24380919 Free article. No abstract available.
Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M. Schlingmann KP, et al. Among authors: konrad m. N Engl J Med. 2011 Aug 4;365(5):410-21. doi: 10.1056/NEJMoa1103864. Epub 2011 Jun 15. N Engl J Med. 2011. PMID: 21675912 Free article.
Inherited disorders of renal hypomagnesaemia.
Konrad M, Schlingmann KP. Konrad M, et al. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv63-71. doi: 10.1093/ndt/gfu198. Nephrol Dial Transplant. 2014. PMID: 25165187 Review.
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: konrad m. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D, Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M, Schlingmann KP, Litwin M. Pronicka E, et al. Among authors: konrad m. J Appl Genet. 2017 Aug;58(3):349-353. doi: 10.1007/s13353-017-0397-2. Epub 2017 May 3. J Appl Genet. 2017. PMID: 28470390 Free PMC article.
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.
Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, Emma F, Schlingmann KP, Singh M, Trepiccione F, Walsh SB, Whitton K, Vargas-Poussou R, Bockenhauer D. Konrad M, et al. Kidney Int. 2021 Feb;99(2):324-335. doi: 10.1016/j.kint.2020.10.035. Kidney Int. 2021. PMID: 33509356 Free article.
502 results