Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

84 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B. Radenkovic S, et al. Among authors: witters p. Am J Hum Genet. 2019 May 2;104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982613 Free PMC article.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. Radenkovic S, et al. Among authors: witters p. Genet Med. 2022 Apr;24(4):894-904. doi: 10.1016/j.gim.2021.12.012. Epub 2022 Jan 15. Genet Med. 2022. PMID: 35042660 Free article.
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction.
Adant I, Bird M, Decru B, Windmolders P, Wallays M, de Witte P, Rymen D, Witters P, Vermeersch P, Cassiman D, Ghesquière B. Adant I, et al. Among authors: witters p. Mol Metab. 2022 Sep;63:101537. doi: 10.1016/j.molmet.2022.101537. Epub 2022 Jun 27. Mol Metab. 2022. PMID: 35772644 Free PMC article.
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.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E. Radenkovic S, et al. Among authors: witters p. Cell Rep Med. 2023 Jun 20;4(6):101056. doi: 10.1016/j.xcrm.2023.101056. Epub 2023 May 30. Cell Rep Med. 2023. PMID: 37257447 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.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Ligezka AN, et al. Among authors: witters p. Ann Neurol. 2021 Dec;90(6):887-900. doi: 10.1002/ana.26245. Epub 2021 Oct 26. Ann Neurol. 2021. PMID: 34652821 Free PMC article.
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.
84 results