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Page 1
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. Witters P, et al. Genet Med. 2020 Jun;22(6):1102-1107. doi: 10.1038/s41436-020-0767-8. Epub 2020 Feb 27. Genet Med. 2020. PMID: 32103184 Free PMC article.
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. Morava E, et al. Among authors: witters p. J Inherit Metab Dis. 2016 Sep;39(5):713-723. doi: 10.1007/s10545-016-9945-x. Epub 2016 Jun 10. J Inherit Metab Dis. 2016. PMID: 27287710
Autism in patients with propionic acidemia.
Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, Morava E. Witters P, et al. Mol Genet Metab. 2016 Dec;119(4):317-321. doi: 10.1016/j.ymgme.2016.10.009. Epub 2016 Oct 31. Mol Genet Metab. 2016. PMID: 27825584
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: witters p. 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: witters p. 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.
89 results