| 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients SB Wortmann, LAJ Kluijtmans, RJ Rodenburg, JO Sass, J Nouws, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2013 | 104 | 2013 |
| Metabolomics of urinary organic acids in respiratory chain deficiencies in children CJ Reinecke, G Koekemoer, FH Van der Westhuizen, R Louw, ... Metabolomics 8, 264-283, 2012 | 83 | 2012 |
| Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease EM Van Der Walt, I Smuts, RW Taylor, JL Elson, DM Turnbull, R Louw, ... European Journal of Human Genetics 20 (6), 650-656, 2012 | 39 | 2012 |
| Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach I Smuts, FH Van der Westhuizen, R Louw, LJ Mienie, UFH Engelke, ... Metabolomics 9, 379-391, 2013 | 33 | 2013 |
| Untargeted urine metabolomics reveals a biosignature for muscle respiratory chain deficiencies L Venter, Z Lindeque, P Jansen van Rensburg, F Van der Westhuizen, ... Metabolomics 11, 111-121, 2015 | 29 | 2015 |
| An overview of a cohort of South African patients with mitochondrial disorders I Smuts, R Louw, H Du Toit, B Klopper, LJ Mienie, FH Van der Westhuizen Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 27 | 2010 |
| Combined tarsal and carpal tunnel syndrome in mucolipidosis type III: a case study and review I Smuts, D Potgieter, FH Van Der Westhuizen Annals of the New York Academy of Sciences 1151 (1), 77-84, 2009 | 26 | 2009 |
| 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 | 23 | 2018 |
| International paediatric mitochondrial disease scale S Koene, JCM Hendriks, I Dirks, L De Boer, MC De Vries, MCH Janssen, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016 | 23 | 2016 |
| Characterization of rotavirus infection in a hospital neonatal unit in Pretoria, South Africa D Steele, E Reynecke, M de Beer, P Bos, I Smuts Journal of tropical pediatrics 48 (3), 167-171, 2002 | 23 | 2002 |
| 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 | 22 | 2021 |
| Understanding the implications of mitochondrial DNA variation in the health of black southern African populations: The 2014 Workshop F Van der Westhuizen, PZ Sinxadi, C Dandara, I Smuts, G Riordan, ... Wiley, 2015 | 19 | 2015 |
| Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia FH Van der Westhuizen, J Smet, O Levanets, M Meissner‐Roloff, R Louw, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 16 | 2010 |
| Panel-based nuclear and mitochondrial next-generation sequencing outcomes of an ethnically diverse pediatric patient cohort with mitochondrial disease M Schoonen, I Smuts, R Louw, JL Elson, E Van Dyk, LM Jonck, ... The Journal of Molecular Diagnostics 21 (3), 503-513, 2019 | 13 | 2019 |
| The dilemma of diagnosing coenzyme Q10 deficiency in muscle R Louw, I Smuts, KL Wilsenach, LM Jonck, M Schoonen, ... Molecular genetics and metabolism 125 (1-2), 38-43, 2018 | 11 | 2018 |
| Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease? S Meldau, G Riordan, F Van der Westhuizen, JL Elson, I Smuts, ... South African Medical Journal 106 (3), 234-236, 2016 | 7 | 2016 |
| Cerebral palsy and criteria implicating intrapartum hypoxia in neonatal encephalopathy–an obstetric perspective for the South African setting I Bhorat, E Buchmann, P Soma-Pillay, E Nicolaou, L Pistorius, I Smuts Health and Medical Publishing Group, 2021 | 5 | 2021 |
| Viral infections of the central nervous system I Smuts, GV Lamb Viral Infections in Children, Volume II, 83-123, 2017 | 5 | 2017 |
| Neuromuscular disease genetics in under-represented populations: increasing data diversity LA Wilson, WL Macken, LD Perry, CJ Record, KR Schon, RSS Frezatti, ... Brain 146 (12), 5098-5109, 2023 | 4 | 2023 |
| A bioinformatics pipeline for rare genetic diseases in South African patients M Schoonen, AS Seyffert, FH van Der Westhuizen, I Smuts South African Journal of Science 115 (3-4), 1-3, 2019 | 3 | 2019 |
