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Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.
Dijkstra AM, de Blaauw P, van Rijt WJ, Renting H, Maatman RGHJ, van Spronsen FJ, Maase RE, Schielen PCJI, Derks TGJ, Heiner-Fokkema MR. Dijkstra AM, et al. Among authors: derks tgj. Int J Neonatal Screen. 2023 Jun 21;9(3):34. doi: 10.3390/ijns9030034. Int J Neonatal Screen. 2023. PMID: 37489487 Free PMC article.
Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases.
Nalin T, Venema K, Weinstein DA, de Souza CF, Perry ID, van Wandelen MT, van Rijn M, Smit GP, Schwartz IV, Derks TG. Nalin T, et al. J Inherit Metab Dis. 2015 Sep;38(5):987. doi: 10.1007/s10545-015-9858-0. J Inherit Metab Dis. 2015. PMID: 25989743 Free article. No abstract available.
Mutations in RARS cause hypomyelination.
Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q. Wolf NI, et al. Ann Neurol. 2014 Jul;76(1):134-9. doi: 10.1002/ana.24167. Epub 2014 May 16. Ann Neurol. 2014. PMID: 24777941
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.
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.
107 results