Nanda Verhoeven Duif
Nanda Verhoeven Duif
UMC Utrecht
Bestätigte E-Mail-Adresse bei
Zitiert von
Zitiert von
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
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
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
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
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
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
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
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
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
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
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
GR Monroe, GW Frederix, SMC Savelberg, TI De Vries, KJ Duran, ...
Genetics in Medicine 18 (9), 949-956, 2016
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
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
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
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
The metabolism of phytanic acid and pristanic acid in man: a review
NM Verhoeven, RJA Wanders, JM Saudubray, C Jakobs
Journal of inherited metabolic disease 21 (7), 697-728, 1998
Human metabolism of phytanic acid and pristanic acid
NM Verhoeven, C Jakobs
Progress in lipid research 40 (6), 453-466, 2001
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect
MS Van Der Knaap, NM Verhoeven, P Maaswinkel‐Mooij, PJW Pouwels, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
A Schulze, GF Hoffmann, P Bachert, S Kirsch, GS Salomons, ...
Neurology 67 (4), 719-721, 2006
An update on serine deficiency disorders
SN Van der Crabben, NM Verhoeven-Duif, EH Brilstra, L Van Maldergem, ...
Journal of inherited metabolic disease 36 (4), 613-619, 2013
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