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Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD.
Kaufmann M, Gallagher JC, Peacock M, Schlingmann KP, Konrad M, DeLuca HF, Sigueiro R, Lopez B, Mourino A, Maestro M, St-Arnaud R, Finkelstein JS, Cooper DP, Jones G. Kaufmann M, et al. Among authors: schlingmann kp. J Clin Endocrinol Metab. 2014 Jul;99(7):2567-74. doi: 10.1210/jc.2013-4388. Epub 2014 Mar 26. J Clin Endocrinol Metab. 2014. PMID: 24670084 Free PMC article.
New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG. Lainez S, et al. Among authors: schlingmann kp. Eur J Hum Genet. 2014 Apr;22(4):497-504. doi: 10.1038/ejhg.2013.178. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942199 Free PMC article.
A lifetime of hypercalcemia and hypercalciuria, finally explained.
Jacobs TP, Kaufman M, Jones G, Kumar R, Schlingmann KP, Shapses S, Bilezikian JP. Jacobs TP, et al. Among authors: schlingmann kp. J Clin Endocrinol Metab. 2014 Mar;99(3):708-12. doi: 10.1210/jc.2013-3802. Epub 2014 Jan 13. J Clin Endocrinol Metab. 2014. PMID: 24423361 Free PMC article. Review.
Inherited disorders of renal hypomagnesaemia.
Konrad M, Schlingmann KP. Konrad M, et al. Among authors: schlingmann kp. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv63-71. doi: 10.1093/ndt/gfu198. Nephrol Dial Transplant. 2014. PMID: 25165187 Review.
Genetic Diseases of Vitamin D Metabolizing Enzymes.
Jones G, Kottler ML, Schlingmann KP. Jones G, et al. Among authors: schlingmann kp. Endocrinol Metab Clin North Am. 2017 Dec;46(4):1095-1117. doi: 10.1016/j.ecl.2017.07.011. Epub 2017 Oct 5. Endocrinol Metab Clin North Am. 2017. PMID: 29080636 Review.
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF. van der Wijst J, et al. Among authors: schlingmann kp. Nephron. 2018;139(4):359-366. doi: 10.1159/000488954. Epub 2018 May 23. Nephron. 2018. PMID: 29791908 Free PMC article.
68 results