| Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome SM Houten, W Kuis, M Duran, TJ De Koning, A van Royen-Kerkhof, ... Nature genetics 22 (2), 175-177, 1999 | 594 | 1999 |
| Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study M Aldenhoven, RF Wynn, PJ Orchard, A O’Meara, P Veys, A Fischer, ... Blood, The Journal of the American Society of Hematology 125 (13), 2164-2172, 2015 | 358 | 2015 |
| L-serine in disease and development TJ De Koning, K Snell, M Duran, R Berger, BT Poll-The, R Surtees Biochemical Journal 371 (3), 653-661, 2003 | 324 | 2003 |
| Magnetic resonance imaging pattern recognition in hypomyelinating disorders ME Steenweg, A Vanderver, S Blaser, A Bizzi, TJ De Koning, ... Brain 133 (10), 2971-2982, 2010 | 310 | 2010 |
| D-amino acids in the central nervous system in health and disease SA Fuchs, R Berger, LWJ Klomp, TJ De Koning Molecular genetics and metabolism 85 (3), 168-180, 2005 | 243 | 2005 |
| The clinical outcome of Hurler syndrome after stem cell transplantation M Aldenhoven, JJ Boelens, TJ de Koning Biology of Blood and Marrow Transplantation 14 (5), 485-498, 2008 | 237 | 2008 |
| L-serine synthesis in the central nervous system: a review on serine deficiency disorders L Tabatabaie, LW Klomp, R Berger, TJ De Koning Molecular genetics and metabolism 99 (3), 256-262, 2010 | 231 | 2010 |
| Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations K Laghmani, BB Beck, SS Yang, E Seaayfan, A Wenzel, B Reusch, ... New England Journal of Medicine 374 (19), 1853-1863, 2016 | 208 | 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 | 175 | 2011 |
| Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency TJ De Koning, LWJ Klomp, ACC Van Oppen, FA Beemer, L Dorland, ... The Lancet 364 (9452), 2221-2222, 2004 | 146 | 2004 |
| A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency TJ De Koning, L Dorland, OP Van Diggelen, AMC Boonman, GJ De Jong, ... Biochemical and biophysical research communications 245 (1), 38-42, 1998 | 141 | 1998 |
| 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 | 140 | 2013 |
| Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries PM Van Hasselt, TJ De Koning, N Kvist, E De Vries, CR Lundin, R Berger, ... Pediatrics 121 (4), e857-e863, 2008 | 136 | 2008 |
| Musculoskeletal manifestations of lysosomal storage disorders M Aldenhoven, RJB Sakkers, J Boelens, TJ De Koning, NM Wulffraat Annals of the rheumatic diseases 68 (11), 1659-1665, 2009 | 127 | 2009 |
| Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG M Aebi, A Helenius, B Schenk, R Barone, A Fiumara, EG Berger, ... Glycoconjugate journal 16, 669-671, 1999 | 125 | 1999 |
| Rapid targeted genomics in critically ill newborns CC Van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ De Koning, ... Pediatrics 140 (4), 2017 | 123 | 2017 |
| A novel diagnostic approach to patients with myoclonus R Zutt, ME Van Egmond, JW Elting, PJ Van Laar, OF Brouwer, DA Sival, ... Nature Reviews Neurology 11 (12), 687-697, 2015 | 118 | 2015 |
| Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation J Lübbehusen, C Thiel, N Rind, D Ungar, BH Prinsen, TJ de Koning, ... Human molecular genetics 19 (18), 3623-3633, 2010 | 116 | 2010 |
| Serine-deficiency syndromes TJ De Koning, LWJ Klomp Current opinion in neurology 17 (2), 197-204, 2004 | 116 | 2004 |
| Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency—a neurometabolic disorder associated with reduced L-serine biosynthesis LWJ Klomp, TJ De Koning, HEM Malingré, EACM Van Beurden, M Brink, ... The American Journal of Human Genetics 67 (6), 1389-1399, 2000 | 115 | 2000 |
