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Desiree Smith
Desiree Smith
VU University Medical Center
在 vumc.nl 的电子邮件经过验证
标题
引用次数
引用次数
年份
[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
1482009
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
1392011
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
1312011
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
1242010
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
1212007
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
1142011
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
1082006
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
872004
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
852013
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
832013
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
792006
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
782005
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
762018
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
732013
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
652020
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
652007
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
582004
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
552019
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
542007
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
542005
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