Dercksen M - Search Results

1

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J; ICGNMD Consortium; Wanders RJA, van der Westhuizen FH. Bisschoff M, et al. Among authors: dercksen m. Orphanet J Rare Dis. 2024 Jan 14;19(1):15. doi: 10.1186/s13023-023-03014-8. Orphanet J Rare Dis. 2024. PMID: 38221620 Free PMC article.

2

Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Dercksen M, Duran M, Ijlst L, Mienie LJ, Reinecke CJ, Ruiter JP, Waterham HR, Wanders RJ. Dercksen M, et al. J Inherit Metab Dis. 2012 Nov;35(6):1021-9. doi: 10.1007/s10545-012-9457-2. Epub 2012 Feb 17. J Inherit Metab Dis. 2012. PMID: 22350545

3

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

Dercksen M, Crutchley AC, Honey EM, Lippert MM, Matthijs G, Mienie LJ, Schuman HC, Vorster BC, Jaeken J. Dercksen M, et al. JIMD Rep. 2013;8:17-23. doi: 10.1007/8904_2012_150. Epub 2012 Jul 1. JIMD Rep. 2013. PMID: 23430515 Free PMC article.

4

Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters.

Dercksen M, IJlst L, Duran M, Mienie LJ, van Cruchten A, van der Westhuizen FH, Wanders RJ. Dercksen M, et al. Biochim Biophys Acta. 2014 Dec;1842(12 Pt A):2510-6. doi: 10.1016/j.bbadis.2013.04.027. Epub 2013 May 2. Biochim Biophys Acta. 2014. PMID: 23643712 Free article.

5

Polyunsaturated fatty acid status in treated isovaleric acidemia patients.

Dercksen M, Kulik W, Mienie LJ, Reinecke CJ, Wanders RJ, Duran M. Dercksen M, et al. Eur J Clin Nutr. 2016 Oct;70(10):1123-1126. doi: 10.1038/ejcn.2016.100. Epub 2016 Jun 22. Eur J Clin Nutr. 2016. PMID: 27329611

6

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.

Dercksen M, Duran M, IJlst L, Kulik W, Ruiter JP, van Cruchten A, Tuchman M, Wanders RJ. Dercksen M, et al. Mol Genet Metab. 2016 Dec;119(4):307-310. doi: 10.1016/j.ymgme.2016.10.004. Epub 2016 Oct 13. Mol Genet Metab. 2016. PMID: 27771289

7

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M. van der Westhuizen FH, et al. Among authors: dercksen m. J Neurol Sci. 2018 Jan 15;384:121-125. doi: 10.1016/j.jns.2017.11.012. Epub 2017 Nov 15. J Neurol Sci. 2018. PMID: 29249369

8

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.

Mereis M, Wanders RJA, Schoonen M, Dercksen M, Smuts I, van der Westhuizen FH. Mereis M, et al. Among authors: dercksen m. Int J Biochem Cell Biol. 2021 Mar;132:105899. doi: 10.1016/j.biocel.2020.105899. Epub 2020 Dec 3. Int J Biochem Cell Biol. 2021. PMID: 33279678 Review.

9

An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South Africa.

Conradie EH, Malherbe H, Hendriksz CJ, Dercksen M, Vorster BC. Conradie EH, et al. Among authors: dercksen m. Biopreserv Biobank. 2021 Apr;19(2):143-150. doi: 10.1089/bio.2020.0108. Epub 2021 Feb 9. Biopreserv Biobank. 2021. PMID: 33567219 Review.

10

The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide.

Dercksen M, Conradie EH, Hendriksz CJ, Malherbe H, Vorster BC. Dercksen M, et al. S Afr Med J. 2023 Dec 4;113(12):9. doi: 10.7196/SAMJ.2023.v113i12.1507. S Afr Med J. 2023. PMID: 38525623 Free article. No abstract available.

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