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MPV17: fatal hepatocerebral presentation in a Brazilian infant.
Nogueira C, de Souza CF, Husny A, Derks TG, Santorelli FM, Vilarinho L. Nogueira C, et al. Mol Genet Metab. 2012 Dec;107(4):764. doi: 10.1016/j.ymgme.2012.10.010. Epub 2012 Oct 23. Mol Genet Metab. 2012. PMID: 23137571 No abstract available.
Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice.
Martines AMF, Gerding A, Stolle S, Vieira-Lara MA, Wolters JC, Jurdzinski A, Bongiovanni L, de Bruin A, van der Vlies P, van der Vries G, Bloks VW, Derks TGJ, Reijngoud DJ, Bakker BM. Martines AMF, et al. Among authors: derks tgj. Sci Rep. 2019 Oct 10;9(1):14539. doi: 10.1038/s41598-019-50758-0. Sci Rep. 2019. PMID: 31601874 Free PMC article.
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA, Ferdinandusse S, Denis S, Fuchs SA, Schwantje M, Geurtzen R, van Wegberg AMJ, Huigen MCDG, Kluijtmans LAJ, Wanders RJA, Derks TGJ, de Boer L, Houtkooper RH, de Vries MC, van Karnebeek CDM. Veenvliet ARJ, et al. Among authors: derks tgj. Mol Genet Metab Rep. 2022 May 4;31:100873. doi: 10.1016/j.ymgmr.2022.100873. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782614 Free PMC article.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Among authors: derks tgj. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Rossi A, et al. Among authors: derks tgj. J Inherit Metab Dis. 2020 Jul;43(4):770-777. doi: 10.1002/jimd.12224. Epub 2020 Feb 26. J Inherit Metab Dis. 2020. PMID: 32064649 Free PMC article.
A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management.
Peeks F, Hoogeveen IJ, Feldbrugge RL, Burghard R, de Boer F, Fokkert-Wilts MJ, van der Klauw MM, Oosterveer MH, Derks TGJ. Peeks F, et al. Among authors: derks tgj. J Inherit Metab Dis. 2021 Sep;44(5):1136-1150. doi: 10.1002/jimd.12383. Epub 2021 May 5. J Inherit Metab Dis. 2021. PMID: 33834518 Free PMC article.
103 results