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Page 1
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
Single-cell RNA sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation.
Declercq M, Treps L, Geldhof V, Conchinha NV, de Rooij LPMH, Subramanian A, Feyeux M, Cotinat M, Boeckx B, Vinckier S, Dupont L, Vermeulen F, Boon M, Proesmans M, Libbrecht L, Pirenne J, Monbaliu D, Jochmans I, Dewerchin M, Eelen G, Roskams T, Verleden S, Lambrechts D, Carmeliet P, Witters P. Declercq M, et al. Among authors: witters p. Liver Int. 2024 Sep;44(9):2382-2395. doi: 10.1111/liv.15963. Epub 2024 Jun 7. Liver Int. 2024. PMID: 38847551
Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis.
Witters P, Pirenne J, Aerts R, Monbaliu D, Nevens F, Verslype C, Laleman W, Roskams T, Desmet L, Vlasselaers D, Mariën P, Hoffman I, Lombaerts R, Goethals E, Jaeken J, Meersseman W, Cassiman D. Witters P, et al. J Inherit Metab Dis. 2010 Aug;33(4):451. doi: 10.1007/s10545-010-9108-4. Epub 2010 Jun 26. J Inherit Metab Dis. 2010. PMID: 20582478 No abstract available.
Erratum to: 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):759. doi: 10.1007/s10545-016-9967-4. J Inherit Metab Dis. 2016. PMID: 27498540 No abstract available.
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.
91 results