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Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Rapp CK, Van Dijck I, Laugwitz L, Boon M, Briassoulis G, Ilia S, Kammer B, Reu S, Hornung S, Buchert R, Sofan L, Froukh T, Witters P, Rymen D, Haack TB, Proesmans M, Griese M. Rapp CK, et al. Among authors: witters p. Clin Genet. 2021 Oct;100(4):453-461. doi: 10.1111/cge.14016. Epub 2021 Jul 14. Clin Genet. 2021. PMID: 34165204 Review.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Among authors: witters p. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.
Genotype-Phenotype Correlations in PMM2-CDG.
Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P. Vaes L, et al. Among authors: witters p. Genes (Basel). 2021 Oct 21;12(11):1658. doi: 10.3390/genes12111658. Genes (Basel). 2021. PMID: 34828263 Free PMC article.
Glycosphingolipids in congenital disorders of glycosylation (CDG).
Jáñez Pedrayes A, Rymen D, Ghesquière B, Witters P. Jáñez Pedrayes A, et al. Among authors: witters p. Mol Genet Metab. 2024 May;142(1):108434. doi: 10.1016/j.ymgme.2024.108434. Epub 2024 Mar 5. Mol Genet Metab. 2024. PMID: 38489976 Review.
Liver disease in cystic fibrosis presents as non-cirrhotic portal hypertension.
Witters P, Libbrecht L, Roskams T, De Boeck K, Dupont L, Proesmans M, Vermeulen F, Maleux G, Monbaliu D, Pirenne J, Cassiman D. Witters P, et al. J Cyst Fibros. 2017 Sep;16(5):e11-e13. doi: 10.1016/j.jcf.2017.03.006. Epub 2017 Mar 25. J Cyst Fibros. 2017. PMID: 28347603 Free article. No abstract available.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: witters p. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype.
Declercq M, de Zeeuw P, Conchinha NV, Geldhof V, Ramalho AS, García-Caballero M, Brepoels K, Ensinck M, Carlon MS, Bird MJ, Vinckier S, Proesmans M, Vermeulen F, Dupont L, Ghesquière B, Dewerchin M, Carmeliet P, Cassiman D, Treps L, Eelen G, Witters P. Declercq M, et al. Among authors: witters p. Eur Respir J. 2021 Apr 22;57(4):2000261. doi: 10.1183/13993003.00261-2020. Print 2021 Apr. Eur Respir J. 2021. PMID: 33184117 Free article.
84 results