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Mevalonate kinase deficiency nomenclature.
Stoffels M, van der Meer JW, Simon A. Stoffels M, et al. Rheumatol Int. 2014 Feb;34(2):295-6. doi: 10.1007/s00296-013-2842-9. Epub 2013 Aug 7. Rheumatol Int. 2014. PMID: 23921621 No abstract available.
Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.
de Koning HD, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PL, Elferink MG, Nijman IJ, Jansen PA, Neveling K, van der Meer JW, Schalkwijk J, Simon A. de Koning HD, et al. Among authors: stoffels m. J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16. J Allergy Clin Immunol. 2015. PMID: 25239704 No abstract available.
Variable expression and treatment of PAPA syndrome.
Schellevis MA, Stoffels M, Hoppenreijs EP, Bodar E, Simon A, van der Meer JW. Schellevis MA, et al. Among authors: stoffels m. Ann Rheum Dis. 2011 Jun;70(6):1168-70. doi: 10.1136/ard.2009.126185. Epub 2011 Feb 16. Ann Rheum Dis. 2011. PMID: 21325428 No abstract available.
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FPM, Collin RWJ. Siemiatkowska AM, et al. Among authors: stoffels m. Ophthalmology. 2013 Dec;120(12):2697-2705. doi: 10.1016/j.ophtha.2013.07.052. Epub 2013 Sep 29. Ophthalmology. 2013. PMID: 24084495
58 results