Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project D McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, ... Genetics in Medicine 13 (3), 230-254, 2011 | 381 | 2011 |
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass‐spectrometry HCMT Prinsen, BGM Schiebergen‐Bronkhorst, MW Roeleveld, JJM Jans, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016 | 160 | 2016 |
Reduced symptoms of inattention after dietary omega-3 fatty acid supplementation in boys with and without attention deficit/hyperactivity disorder DJ Bos, B Oranje, ES Veerhoek, RM Van Diepen, JMH Weusten, ... Neuropsychopharmacology 40 (10), 2298-2306, 2015 | 147 | 2015 |
Enhanced interpretation of newborn screening results without analyte cutoff values G Marquardt, R Currier, D McHugh, D Gavrilov, MJ Magera, D Matern, ... Genetics in medicine 14 (7), 648-655, 2012 | 142 | 2012 |
Downy Mildew Resistance in Arabidopsis by Mutation of HOMOSERINE KINASE M van Damme, T Zeilmaker, J Elberse, A Andel, ... The Plant Cell 21 (7), 2179-2189, 2009 | 118 | 2009 |
Evidence for increased synthesis of lipoprotein (a) in the nephrotic syndrome. MG De Sain-Van Der Velden, DJ Reijngoud, GA Kaysen, MM Gadellaa, ... Journal of the American Society of Nephrology 9 (8), 1474-1481, 1998 | 107 | 1998 |
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy CM Westermann, L Dorland, DM Votion, MGM De Sain-van der Velden, ... Neuromuscular Disorders 18 (5), 355-364, 2008 | 103 | 2008 |
Metabolic profiles in children during fasting MR Van Veen, PM Van Hasselt, MGM de Sain-van der Velden, ... Pediatrics 127 (4), e1021-e1027, 2011 | 96 | 2011 |
Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a RHJ Bandsma, BH Prinsen, M de Sain-van der Velden, JP Rake, T Boer, ... Pediatric research 63 (6), 702-707, 2008 | 96 | 2008 |
Albumin turnover: experimental approach and its application in health and renal diseases BH Prinsen Clinica Chimica Acta 347 (1-2), 1-14, 2004 | 96 | 2004 |
Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry M Van der Ham, M Albersen, TJ De Koning, G Visser, A Middendorp, ... Analytica chimica acta 712, 108-114, 2012 | 87 | 2012 |
Maternal supplementation with citrulline increases renal nitric oxide in young spontaneously hypertensive rats and has long-term antihypertensive effects MP Koeners, EE van Faassen, S Wesseling, M de Sain-van der Velden, ... Hypertension 50 (6), 1077-1084, 2007 | 85 | 2007 |
Identification of human D lactate dehydrogenase deficiency GR Monroe, AM van Eerde, F Tessadori, KJ Duran, SMC Savelberg, ... Nature communications 10 (1), 1477, 2019 | 78 | 2019 |
Quantification of free and total sialic acid excretion by LC–MS/MS M van der Ham, BH Prinsen, JGM Huijmans, NGGM Abeling, B Dorland, ... Journal of Chromatography B 848 (2), 251-257, 2007 | 67 | 2007 |
Differences between acylcarnitine profiles in plasma and bloodspots EF Diekman, JJ Jans, M van der Ham, BH Prinsen, G Visser, ... Molecular genetics and metabolism 110 (1-2), 116-121, 2013 | 66 | 2013 |
Plasma α2 macroglobulin is increased in nephrotic patients as a result of increased synthesis alone TJ Rabelink, DJ Reijngoud, MM Gadellaa, HAM Voorbij, F Stellaard, ... Kidney international 54 (2), 530-535, 1998 | 66 | 1998 |
Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma HA Haijes, M Willemsen, M Van der Ham, J Gerrits, ML Pras-Raves, ... Metabolites 9 (1), 12, 2019 | 63 | 2019 |
Whole body composition analysis by the BodPod air‐displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage M Albersen, M Bonthuis, NM De Roos, DAM den van Hurk, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 59 | 2010 |
D‐serine in the developing human central nervous system SA Fuchs, L Dorland, MG De Sain‐Van Der Velden, M Hendriks, ... Annals of neurology 60 (4), 476-480, 2006 | 56 | 2006 |
Diagnostic value of urinary mevalonic acid excretion in patients with a clinical suspicion of mevalonate kinase deficiency (MKD) J Jeyaratnam, NM Ter Haar, MGM de Sain-van der Velden, HR Waterham, ... JIMD Reports, Volume 27, 33-38, 2016 | 49 | 2016 |