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649 results

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Page 1
An unusual presentation of Denys-Drash syndrome due to bigenic disease.
Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E. Eneman B, et al. Among authors: van damme lombaerts r, van den heuvel l. Pediatrics. 2014 Jan;133(1):e252-6. doi: 10.1542/peds.2013-1524. Epub 2013 Dec 30. Pediatrics. 2014. PMID: 24379226
The use of CDME in cystinosis research.
Wilmer MJ, van den Heuvel LP, Levtchenko EN. Wilmer MJ, et al. Neurochem Res. 2008 Nov;33(11):2373-4. doi: 10.1007/s11064-008-9709-6. Epub 2008 Apr 22. Neurochem Res. 2008. PMID: 18427982 Free article. No abstract available.
Cystinosis: practical tools for diagnosis and treatment.
Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN. Wilmer MJ, et al. Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24. Pediatr Nephrol. 2011. PMID: 20734088 Free PMC article. Review.
Cysteamine toxicity in patients with cystinosis.
Besouw MT, Bowker R, Dutertre JP, Emma F, Gahl WA, Greco M, Lilien MR, McKiernan J, Nobili F, Schneider JA, Skovby F, van den Heuvel LP, Van't Hoff WG, Levtchenko EN. Besouw MT, et al. J Pediatr. 2011 Dec;159(6):1004-11. doi: 10.1016/j.jpeds.2011.05.057. Epub 2011 Jul 23. J Pediatr. 2011. PMID: 21784456
Copper deficiency in patients with cystinosis with cysteamine toxicity.
Besouw MT, Schneider J, Janssen MC, Greco M, Emma F, Cornelissen EA, Desmet K, Skovby F, Nobili F, Lilien MR, De Paepe A, Malfait F, Symoens S, van den Heuvel LP, Levtchenko EN. Besouw MT, et al. J Pediatr. 2013 Sep;163(3):754-60. doi: 10.1016/j.jpeds.2013.03.078. Epub 2013 May 4. J Pediatr. 2013. PMID: 23651769
Clinical utility gene card for: cystinosis.
Levtchenko E, van den Heuvel L, Emma F, Antignac C. Levtchenko E, et al. Among authors: van den heuvel l. Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.204. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045844 Free PMC article. No abstract available.
Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.
Mekahli D, Decuypere JP, Sammels E, Welkenhuyzen K, Schoeber J, Audrezet MP, Corvelyn A, Dechênes G, Ong AC, Wilmer MJ, van den Heuvel L, Bultynck G, Parys JB, Missiaen L, Levtchenko E, De Smedt H. Mekahli D, et al. Among authors: van den heuvel l. Pflugers Arch. 2014 Aug;466(8):1591-604. doi: 10.1007/s00424-013-1394-x. Epub 2013 Nov 6. Pflugers Arch. 2014. PMID: 24193408
649 results