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Page 1
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA. Parrock S, et al. Among authors: oosterveld mj. Nephron Physiol. 2013;123(3-4):7-14. doi: 10.1159/000356353. Epub 2013 Nov 2. Nephron Physiol. 2013. PMID: 24193250 Free article.
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.
Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, van Eerde AM, Pfundt R, Terhal PA, van der Zwaag B, Nikkels PG, Sachs N, Goldschmeding R, Knoers NV, Renkema KY, Sonnenberg A. Nicolaou N, et al. Among authors: oosterveld mj. J Clin Invest. 2012 Dec;122(12):4375-87. doi: 10.1172/JCI64100. Epub 2012 Nov 1. J Clin Invest. 2012. PMID: 23114595 Free PMC article.
Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial.
Frishberg Y, Deschênes G, Groothoff JW, Hulton SA, Magen D, Harambat J, Van't Hoff WG, Lorch U, Milliner DS, Lieske JC, Haslett P, Garg PP, Vaishnaw AK, Talamudupula S, Lu J, Habtemariam BA, Erbe DV, McGregor TL, Cochat P; study collaborators. Frishberg Y, et al. Clin J Am Soc Nephrol. 2021 Jul;16(7):1025-1036. doi: 10.2215/CJN.14730920. Epub 2021 May 13. Clin J Am Soc Nephrol. 2021. PMID: 33985991 Free PMC article. Clinical Trial.
A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure.
Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Falix FA, et al. Among authors: oosterveld mj. Eur J Pediatr. 2017 Apr;176(4):515-519. doi: 10.1007/s00431-017-2871-6. Epub 2017 Feb 10. Eur J Pediatr. 2017. PMID: 28188379 Free PMC article.
Eculizumab in Pediatric Dense Deposit Disease.
Oosterveld MJ, Garrelfs MR, Hoppe B, Florquin S, Roelofs JJ, van den Heuvel LP, Amann K, Davin JC, Bouts AH, Schriemer PJ, Groothoff JW. Oosterveld MJ, et al. Clin J Am Soc Nephrol. 2015 Oct 7;10(10):1773-82. doi: 10.2215/CJN.01360215. Epub 2015 Aug 27. Clin J Am Soc Nephrol. 2015. PMID: 26316621 Free PMC article.
Development and Validation of a New Gas Chromatography-Tandem Mass Spectrometry Method for the Measurement of Enrichment of Glyoxylate Metabolism Analytes in Hyperoxaluria Patients Using a Stable Isotope Procedure.
van Harskamp D, Garrelfs SF, Oosterveld MJS, Groothoff JW, van Goudoever JB, Schierbeek H. van Harskamp D, et al. Anal Chem. 2020 Jan 21;92(2):1826-1832. doi: 10.1021/acs.analchem.9b03670. Epub 2020 Jan 3. Anal Chem. 2020. PMID: 31867958 Free PMC article.
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
Garrelfs SF, Frishberg Y, Hulton SA, Koren MJ, O'Riordan WD, Cochat P, Deschênes G, Shasha-Lavsky H, Saland JM, Van't Hoff WG, Fuster DG, Magen D, Moochhala SH, Schalk G, Simkova E, Groothoff JW, Sas DJ, Meliambro KA, Lu J, Sweetser MT, Garg PP, Vaishnaw AK, Gansner JM, McGregor TL, Lieske JC; ILLUMINATE-A Collaborators. Garrelfs SF, et al. N Engl J Med. 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712. N Engl J Med. 2021. PMID: 33789010 Clinical Trial.
48 results