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84 results

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Page 1
Pseudohyperglycemia due to glucometer interference in galactosemia.
Decru B, Blanckaert H, Naulaers G, Vanhole C, Rymen D, Witters P, Van Wambeke I, Gillard P, Vermeersch P. Decru B, et al. Among authors: witters p. Clin Chem Lab Med. 2023 Nov 30;62(5):e107-e109. doi: 10.1515/cclm-2023-1304. Print 2024 Apr 25. Clin Chem Lab Med. 2023. PMID: 38019925 No abstract available.
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Gufon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Among authors: witters p. Orphanet J Rare Dis. 2023 Mar 14;18(1):55. doi: 10.1186/s13023-023-02647-z. Orphanet J Rare Dis. 2023. PMID: 36918897 Free PMC article. No abstract available.
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Among authors: witters p. Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0. Orphanet J Rare Dis. 2022. PMID: 36517856 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.
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia.
Mulder JWCM, Tromp TR, Al-Khnifsawi M, Blom DJ, Chlebus K, Cuchel M, D'Erasmo L, Gallo A, Hovingh GK, Kim NT, Long J, Raal FJ, Schonck WAM, Soran H, Truong TH, Boersma E, Roeters van Lennep JE; Homozygous Familial Hypercholesterolemia International Clinical Collaborators. Mulder JWCM, et al. JAMA Cardiol. 2024 Apr 1;9(4):313-322. doi: 10.1001/jamacardio.2023.5597. JAMA Cardiol. 2024. PMID: 38353972
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.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M. Alharbi H, et al. Among authors: witters p. J Inherit Metab Dis. 2023 Mar;46(2):300-312. doi: 10.1002/jimd.12589. Epub 2023 Jan 29. J Inherit Metab Dis. 2023. PMID: 36651831 Free PMC article.
Liver abscesses in the Western pediatric population.
Grossar L, Hoffman I, Sokal E, Stéphenne X, Witters P. Grossar L, et al. Among authors: witters p. Acta Gastroenterol Belg. 2022 Jul-Sep;85(3):439-445. doi: 10.51821/85.3.10211. Epub 2022 Jun 30. Acta Gastroenterol Belg. 2022. PMID: 35833905 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.
84 results