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Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
Tran TT, Keller RB, Guillemyn B, Pepin M, Corteville JE, Khatib S, Fallah MS, Zeinali S, Malfait F, Symoens S, Coucke P, Witters P, Levtchenko E, Bagherian H, Nickerson DA, Bamshad MJ, Chong JX; University of Washington Center for Mendelian Genomics; Byers PH. Tran TT, et al. Among authors: levtchenko e. HGG Adv. 2021 Aug 20;2(4):100051. doi: 10.1016/j.xhgg.2021.100051. eCollection 2021 Oct 14. HGG Adv. 2021. PMID: 35047842 Free PMC article.
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
Liver involvement in kidney disease and vice versa.
Van Hoeve K, Mekahli D, Morava E, Levtchenko E, Witters P. Van Hoeve K, et al. Among authors: levtchenko e. Pediatr Nephrol. 2018 Jun;33(6):957-971. doi: 10.1007/s00467-017-3715-3. Epub 2017 Jun 23. Pediatr Nephrol. 2018. PMID: 28646278 Review.
Renal involvement in PMM2-CDG, a mini-review.
Altassan R, Witters P, Saifudeen Z, Quelhas D, Jaeken J, Levtchenko E, Cassiman D, Morava E. Altassan R, et al. Among authors: levtchenko e. Mol Genet Metab. 2018 Mar;123(3):292-296. doi: 10.1016/j.ymgme.2017.11.012. Epub 2017 Nov 28. Mol Genet Metab. 2018. PMID: 29229467 Review.
[From gene to disease: cystinosis].
Levtchenko EN, Wilmer M, de Graaf-Hess AC, van den Heuvel LP, Blom H, Monnens LA. Levtchenko EN, et al. Ned Tijdschr Geneeskd. 2004 Mar 6;148(10):476-8. Ned Tijdschr Geneeskd. 2004. PMID: 15042893 Review. Dutch.
287 results