| Interplay between metabolic identities in the intestinal crypt supports stem cell function MJ Rodríguez-Colman, M Schewe, M Meerlo, E Stigter, J Gerrits, ... Nature 543 (7645), 424-427, 2017 | 469 | 2017 |
| X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome GS Salomons, SJM van Dooren, NM Verhoeven, KM Cecil, WS Ball, ... The American Journal of Human Genetics 68 (6), 1497-1500, 2001 | 444 | 2001 |
| Measurement of Urinary d- and l-2-Hydroxyglutarate Enantiomers by Stable-Isotope-Dilution Liquid Chromatography–Tandem Mass Spectrometry after Derivatization with … EA Struys, EEW Jansen, NM Verhoeven, C Jakobs Clinical chemistry 50 (8), 1391-1395, 2004 | 207 | 2004 |
| Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? KM Cecil, GS Salomons, WS Ball Jr, B Wong, G Chuck, NM Verhoeven, ... Annals of neurology 49 (3), 401-404, 2001 | 207 | 2001 |
| Xlinked creatine transporter defect: an overview GS Salomons, SJM Van Dooren, NM Verhoeven, D Marsden, C Schwartz, ... Journal of inherited metabolic disease 26 (2-3), 309-318, 2003 | 206 | 2003 |
| Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria EA Struys, GS Salomons, Y Achouri, E Van Schaftingen, S Grosso, ... The American Journal of Human Genetics 76 (2), 358-360, 2005 | 205 | 2005 |
| Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability GR Monroe, GW Frederix, S Savelberg, TI De Vries, KJ Duran, ... Genetics in Medicine 18 (9), 949-956, 2016 | 193 | 2016 |
| GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis S Mercimek-Mahmutoglu, S Stoeckler-Ipsiroglu, A Adami, R Appleton, ... Neurology 67 (3), 480-484, 2006 | 190 | 2006 |
| Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia MJ Lindhurst, G Fiermonte, S Song, E Struys, F De Leonardis, ... Proceedings of the National Academy of Sciences 103 (43), 15927-15932, 2006 | 186 | 2006 |
| Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts NM Verhoeven, DS Roe, RM Kok, RJA Wanders, C Jakobs, CR Roe Journal of lipid research 39 (1), 66-74, 1998 | 178 | 1998 |
| Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem massspectrometry HCMT Prinsen, BGM SchiebergenBronkhorst, MW Roeleveld, JJM Jans, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016 | 169 | 2016 |
| A sensitive and simple ultra-high-performance-liquid chromatography–tandem mass spectrometry based method for the quantification of d-amino acids in body fluids WF Visser, NM Verhoeven-Duif, R Ophoff, S Bakker, LW Klomp, R Berger, ... Journal of Chromatography A 1218 (40), 7130-7136, 2011 | 169 | 2011 |
| Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy JHJ Huck, NM Verhoeven, EA Struys, GS Salomons, C Jakobs, ... The American Journal of Human Genetics 74 (4), 745-751, 2004 | 157 | 2004 |
| Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway NM Verhoeven, JHJ Huck, B Roos, EA Struys, GS Salomons, AC Douwes, ... The American Journal of Human Genetics 68 (5), 1086-1092, 2001 | 146 | 2001 |
| Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport LS Almeida, NM Verhoeven, B Roos, C Valongo, ML Cardoso, L Vilarinho, ... Molecular genetics and metabolism 82 (3), 214-219, 2004 | 140 | 2004 |
| Lack of creatine in muscle and brain in an adult with GAMT deficiency A Schulze, P Bachert, H Schlemmer, I Harting, T Polster, GS Salomons, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 136 | 2003 |
| An update on serine deficiency disorders SN Van der Crabben, NM Verhoeven-Duif, EH Brilstra, L Van Maldergem, ... Journal of inherited metabolic disease 36, 613-619, 2013 | 131 | 2013 |
| Human metabolism of phytanic acid and pristanic acid NM Verhoeven, C Jakobs Progress in lipid research 40 (6), 453-466, 2001 | 124 | 2001 |
| The metabolism of phytanic acid and pristanic acid in man: a review NM Verhoeven, RJA Wanders, BT Poll-The, JM Saudubray, C Jakobs Journal of inherited metabolic disease 21, 697-728, 1998 | 121 | 1998 |
| l-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients1 ME Steenweg, GS Salomons, Z Yapici, G Uziel, E Scalais, DI Zafeiriou, ... Radiology 251 (3), 856-865, 2009 | 116 | 2009 |
