| Clinical variability of isovaleric acidemia in a genetically homogeneous population M Dercksen, M Duran, L Ijlst, LJ Mienie, CJ Reinecke, JPN Ruiter, ... Journal of inherited metabolic disease 35, 1021-1029, 2012 | 58 | 2012 |
| ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies E Morava, V Tiemes, C Thiel, N Seta, P de Lonlay, H de Klerk, M Mulder, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016 | 54 | 2016 |
| Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters M Dercksen, L IJlst, M Duran, LJ Mienie, A van Cruchten, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (12 …, 2014 | 40 | 2014 |
| A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency FH Van der Westhuizen, I Smuts, E Honey, R Louw, M Schoonen, ... Journal of the Neurological Sciences 384, 121-125, 2018 | 24 | 2018 |
| Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies M Mereis, RJA Wanders, M Schoonen, M Dercksen, I Smuts, ... The international journal of biochemistry & cell biology 132, 105899, 2021 | 23 | 2021 |
| ALG6-CDG in South Africa: genotype-phenotype description of five novel patients M Dercksen, AC Crutchley, EM Honey, MM Lippert, G Matthijs, LJ Mienie, ... JIMD Reports-Case and Research Reports, 2012/5, 17-23, 2013 | 18 | 2013 |
| Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach M Dercksen, G Koekemoer, M Duran, RJA Wanders, LJ Mienie, ... Metabolomics 9, 765-777, 2013 | 16 | 2013 |
| An overview of benefits and challenges of rare disease biobanking in Africa, focusing on South Africa EH Conradie, H Malherbe, CJ Hendriksz, M Dercksen, BC Vorster Biopreservation and Biobanking 19 (2), 143-150, 2021 | 13 | 2021 |
| Undiagnosed phenylketonuria can exist everywhere: Results from an international survey AMJ van Wegberg, F Trefz, M Gizewska, S Ahmed, L Chabraoui, MS Zaki, ... The Journal of Pediatrics 239, 231-234. e2, 2021 | 11 | 2021 |
| Concurrent class analysis identifies discriminatory variables from metabolomics data on isovaleric acidemia G Koekemoer, M Dercksen, J Allison, L Santana, CJ Reinecke Metabolomics 8, 17-28, 2012 | 9 | 2012 |
| Polyunsaturated fatty acid status in treated isovaleric acidemia patients M Dercksen, W Kulik, LJ Mienie, CJ Reinecke, RJA Wanders, M Duran European Journal of Clinical Nutrition 70 (10), 1123-1126, 2016 | 5 | 2016 |
| A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue M Dercksen, M Duran, L IJlst, W Kulik, JPN Ruiter, A van Cruchten, ... Molecular Genetics and Metabolism 119 (4), 307-310, 2016 | 3 | 2016 |
| Impact of Oral Arginine Therapy on Global Arginine Bioavailability in Nigerian Children with Sickle Cell Anemia and Vaso-Occlusive Pain R Onalo, P Cooper, BC Vorster, M Dercksen, A Cilliers, ... Blood 136, 22-23, 2020 | 2 | 2020 |
| Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study M Bisschoff, I Smuts, M Dercksen, M Schoonen, BC Vorster, ... Orphanet Journal of Rare Diseases 19 (1), 15, 2024 | 1 | 2024 |
| Newborn screening in South Africa: The past, present and plans for the future HL Malherbe, J Bonham, M Carrihill, K Chetty, EH Conradie, M Dercksen, ... Rare Dis. Orphan Drugs J 3 (7), 2024 | 1 | 2024 |
| The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide M Dercksen, EH Conradie, CJ Hendriksz, H Malherbe, BC Vorster South African Medical Journal 113 (12), 1512-1513, 2023 | 1 | 2023 |
| The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA-an in-silico and in vitro validation S Kühn, ME Williams, M Dercksen, JO Sass, R van der Sluis Computational and Structural Biotechnology Journal 21, 1236-1248, 2023 | 1 | 2023 |
| Non-Enzymatic Formation of N-acetylated Amino Acid Conjugates in Urine J Jacobs, CGCE van Sittert, LJ Mienie, M Dercksen, M Opperman, ... Applied Sciences 13 (18), 10002, 2023 | | 2023 |
| Novel Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions TM Satekge, EM Honey, B Pitso, M Dercksen, TS Pillay Clinical Chemistry 67 (3), 564-566, 2021 | | 2021 |
| ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (vol 39, pg 713, 2016) E Morava, V Tiemes, C Thiel, N Seta, P de Lonlay, H de Klerk, M Mulder, ... JOURNAL OF INHERITED METABOLIC DISEASE 39 (5), 759-759, 2016 | | 2016 |
Francois van der WesthuizenFocus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa在 nwu.ac.za 的电子邮件经过验证
