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Nanda Verhoeven Duif
Nanda Verhoeven Duif
UMC Utrecht
在 umcutrecht.nl 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
4402017
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
4382001
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
2062001
Xlinked 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
2002003
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
1962004
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
1942005
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
1892016
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
1832006
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
1832006
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
1731998
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
1592011
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
1522004
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
1512016
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
1412004
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
1372001
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
1362003
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
1282013
Human metabolism of phytanic acid and pristanic acid
NM Verhoeven, C Jakobs
Progress in lipid research 40 (6), 453-466, 2001
1242001
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
1191998
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
1102009
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