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Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ. van Grunsven EG, et al. Among authors: van berkel e. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33. doi: 10.1073/pnas.95.5.2128. Proc Natl Acad Sci U S A. 1998. PMID: 9482850 Free PMC article.
Identification of the newly discovered 58 kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: implications for peroxisomal beta-oxidation disorders.
Wanders RJ, Denis S, van Berkel E, Wouters F, Wirtz KW, Seedorf U. Wanders RJ, et al. Among authors: van berkel e. J Inherit Metab Dis. 1998 Jun;21(3):302-5. doi: 10.1023/a:1005349028853. J Inherit Metab Dis. 1998. PMID: 9686381 No abstract available.
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G, Westra D, de Boer EN, van Berkel E, Hofste TGJ, van Zweeden M, Derks RC, Leijsten NFA, Ruiterkamp-Versteeg MHA, Charbon B, Johansson L, Bos-Kruizinga J, Veenstra IJ, de Sain-van der Velden MGM, Voorhoeve E, Heiner-Fokkema MR, van Spronsen F, Sikkema-Raddatz B, Nelen M. Kiewiet G, et al. Among authors: van berkel e. Int J Neonatal Screen. 2024 Mar 7;10(1):20. doi: 10.3390/ijns10010020. Int J Neonatal Screen. 2024. PMID: 38535124 Free PMC article.
14 results