[6S]‐5‐methyltetrahydrofolate increases plasma folate more effectively than folic acid in women with the homozygous or wild‐type 677C→ T polymorphism of … R Prinz‐Langenohl, S Brämswig, O Tobolski, YM Smulders, DEC Smith, ... British journal of pharmacology 158 (8), 2014-2021, 2009 | 148 | 2009 |
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease H Cario, DEC Smith, H Blom, N Blau, H Bode, K Holzmann, U Pannicke, ... The American Journal of Human Genetics 88 (2), 226-231, 2011 | 139 | 2011 |
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function MK Bjursell, HJ Blom, JA Cayuela, ML Engvall, N Lesko, ... The American Journal of Human Genetics 89 (4), 507-515, 2011 | 131 | 2011 |
S-adenosylmethionine is decreased in the cerebrospinal fluid of patients with Alzheimer’s disease M Linnebank, J Popp, Y Smulders, D Smith, A Semmler, M Farkas, L Kulic, ... Neurodegenerative Diseases 7 (6), 373-378, 2010 | 124 | 2010 |
Global DNA methylation measured by liquid chromatography-tandem mass spectrometry: analytical technique, reference values and determinants in healthy subjects RM Kok, DEC Smith, R Barto, AMW Spijkerman, T Teerlink, HJ Gellekink, ... Walter de Gruyter 45 (7), 903-911, 2007 | 121 | 2007 |
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency S Banka, HJ Blom, J Walter, M Aziz, J Urquhart, CM Clouthier, GI Rice, ... The American Journal of Human Genetics 88 (2), 216-225, 2011 | 114 | 2011 |
Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trap YM Smulders, DEC Smith, RM Kok, T Teerlink, DW Swinkels, ... British journal of haematology 132 (5), 623-629, 2006 | 108 | 2006 |
5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolism RM Kok, DEC Smith, JR Dainty, JT Van Den Akker, PM Finglas, ... Analytical biochemistry 326 (2), 129-138, 2004 | 87 | 2004 |
Homocysteine-induced apoptosis in endothelial cells coincides with nuclear NOX2 and peri-nuclear NOX4 activity JA Sipkens, N Hahn, CS van den Brand, C Meischl, SAGM Cillessen, ... Cell biochemistry and biophysics 67, 341-352, 2013 | 85 | 2013 |
Evaluation of the novel folate receptor ligand [18 F] fluoro-PEG-folate for macrophage targeting in a rat model of arthritis YYJ Gent, K Weijers, CFM Molthoff, AD Windhorst, MC Huisman, ... Arthritis research & therapy 15 (2), 1-11, 2013 | 83 | 2013 |
Quantitative determination of erythrocyte folate vitamer distribution by liquid chromatography-tandem mass spectrometry DEC Smith, RM Kok, T Teerlink, C Jakobs, YM Smulders Clinical Chemistry and Laboratory Medicine (CCLM) 44 (4), 450-459, 2006 | 79 | 2006 |
Arginine and mixed amino acids increase protein accretion in the growth-restricted and normal ovine fetus by different mechanisms HA De Boo, PL Van Zijl, DEC Smith, W Kulik, HN Lafeber, JE Harding Pediatric research 58 (2), 270-277, 2005 | 78 | 2005 |
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy MI Mendes, MG Salazar, K Guerrero, I Thiffault, GS Salomons, ... The American Journal of Human Genetics 102 (4), 676-684, 2018 | 76 | 2018 |
Folic acid supplementation does not reduce intracellular homocysteine, and may disturb intracellular one-carbon metabolism DEC Smith, JM Hornstra, RM Kok, HJ Blom, YM Smulders Clinical Chemistry and Laboratory Medicine (CCLM) 51 (8), 1643-1650, 2013 | 73 | 2013 |
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly L Wang, Z Li, D Sievert, DEC Smith, MI Mendes, DY Chen, V Stanley, ... Nature Communications 11 (1), 4038, 2020 | 65 | 2020 |
Homocysteine affects cardiomyocyte viability: concentration-dependent effects on reversible flip-flop, apoptosis and necrosis JA Sipkens, PAJ Krijnen, C Meischl, SAGM Cillessen, YM Smulders, ... Apoptosis 12, 1407-1418, 2007 | 65 | 2007 |
Homocysteine clearance and methylation flux rates in health and end-stage renal disease: association with S-adenosylhomocysteine F Stam, C van Guldener, PM ter Wee, W Kulik, DEC Smith, C Jakobs, ... American Journal of Physiology-Renal Physiology 287 (2), F215-F223, 2004 | 58 | 2004 |
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype AF Theil, E Botta, A Raams, DEC Smith, MI Mendes, G Caligiuri, ... The American Journal of Human Genetics 105 (2), 434-440, 2019 | 55 | 2019 |
Red blood cell folate vitamer distribution in healthy subjects is determined by the methylenetetrahydrofolate reductase C677T polymorphism and by the total folate status YM Smulders, DEC Smith, RM Kok, T Teerlink, H Gellekink, WHJ Vaes, ... The Journal of nutritional biochemistry 18 (10), 693-699, 2007 | 54 | 2007 |
Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism MMC Wamelink, DEC Smith, C Jakobs, NM Verhoeven Journal of inherited metabolic disease 28, 951-963, 2005 | 54 | 2005 |