Research Topics
Genomes and Genes | N M VerhoevenSummaryAffiliation: University Hospital Vrije Universiteit Country: The Netherlands Publications
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Publications
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathwayN M Verhoeven
Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, 1007 MB Amsterdam, The Netherlands
Am J Hum Genet 68:1086-92. 2001..The detection of this new inborn error of pentose metabolism has implications for the diagnostic workup of liver problems of unknown etiology...
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiencyN M Verhoeven
Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
J Inherit Metab Dis 28:169-79. 2005..Discovery of this second patient affected with transaldolase deficiency and liver failure suggests that this disorder has a heterogeneous clinical presentation with highly variable severity...- Human metabolism of phytanic acid and pristanic acidN M Verhoeven
Department of Clinical Chemistry, Metabolic Unit, VU Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
Prog Lipid Res 40:453-66. 2001..Several of the inborn errors involving phytanic acid and/or pristanic acid metabolism have been characterized on the molecular level... - Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblastsN M Verhoeven
Department of Clinical Chemistry, Metabolic Unit, De Boelelaan 1117, Free University Amsterdam, 1081 HV Amsterdam, The Netherlands
Biochim Biophys Acta 1391:351-6. 1998..In fibroblasts from patients affected with bifunctional protein deficiency, the concentrations of 2,3-pristenic acid and 3-hydroxypristanic acid in the medium were higher than in control cell lines... - D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?E A Struys
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
Mol Genet Metab 88:53-7. 2006..The increase of D-2-HG in SSADH deficiency can be explained by the action of hydroxyacid-oxoacid transhydrogenase, a reversible enzyme that oxidases GHB in the presence of 2-ketoglutarate yielding SSA and D-2-HG... - X-linked creatine transporter defect: an overviewG S Salomons
Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
J Inherit Metab Dis 26:309-18. 2003..In approximately 50% of the female carriers, learning disabilities of varying degrees have been noted... - Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric aciduriasE A Struys
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
J Inherit Metab Dis 28:921-30. 2005..Fibroblasts derived from patients with D-2-hydroxyglutaric aciduria showed normal HOT activities. Our results provide the first demonstration and preliminary kinetic characterization of HOT activity in human tissues... - Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblastsL S Almeida
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
Mol Genet Metab 89:392-4. 2006..Furthermore, the transient transfection of HeLa cells will be important for functional analysis of variants of unknown consequence (i.e., missense mutations)... - Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urineM M Wamelink
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
J Inherit Metab Dis 30:735-42. 2007..Our findings reveal novel urinary biomarkers for identification of transaldolase deficiency... - Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolismM M C Wamelink
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
J Inherit Metab Dis 28:951-63. 2005..Both methods can be used for diagnosing inborn errors of metabolism affecting polyol metabolism... - Clinical presentations of patients with polyol abnormalitiesJ H J Huck
Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
Neuropediatrics 35:167-73. 2004..Whether the abnormal sugar and polyol profiles are directly related to the cause of disease via defects in polyol metabolism or transport remains to be elucidated... - Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac diseaseC G Costa
Department of Clinical Chemistry, Free University Hospital, Amsterdam, The Netherlands
J Inherit Metab Dis 19:177-80. 1996 - Plasma creatinine assessment in creatine deficiency: A diagnostic pitfallN M Verhoeven
Department of Clinical Chemistry, University Hospital Vrije Universiteit, Amsterdlam, The Netherlands
J Inherit Metab Dis 23:835-40. 2000..As the Jaffé method is still widely used for routine plasma creatinine measurements, it is important to realize it cannot be used to exclude GAMT deficiency... - Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matterM S van der Knaap
Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands
J Child Neurol 14:728-31. 1999..The elevation of cerebrospinal fluid glycine in the disease of vanishing white matter is either caused by a primary disturbance of glycine metabolism or is secondary to excitotoxic brain damage... - Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometryD S M Schor
Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
J Chromatogr B Analyt Technol Biomed Life Sci 780:199-204. 2002..We also quantified 3-HGA in amniotic fluid of controls (range 0.056-0.11 micro mol/l; n=12) and in two samples from fetuses affected with glutaric aciduria type I... - X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndromeG S Salomons
VU Medical Center, Metabolic Unit, Department of Clinical Chemistry, 1081 HV Amsterdam, The Netherlands
Am J Hum Genet 68:1497-500. 2001..The three female relatives were heterozygous for this mutation in SLC6A8, which has been mapped to Xq28... - Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcomeE Lopriore
Department of Paediatrics, Academic Hospital Free University, Amsterdam, The Netherlands
Eur J Pediatr 160:101-4. 2001..Vigorous work-up in order to reach an expedite diagnosis and prompt medical intervention during acute episodes, especially in the neonatal period, may prevent fatal complications... - Inhibition of the pentose phosphate pathway decreases ischemia-reperfusion-induced creatine kinase release in the heartC J Zuurbier
Department of Anaesthesiology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Cardiovasc Res 62:145-53. 2004..This study investigates whether (1) PC affects mitochondrial redox state, (2) the oxPPP plays a protective or detrimental role in ischemia (I)-reperfusion (R) injury in the intact heart and (3) PPP is altered with PC... - Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum diseaseG A Jansen
University of Amsterdam, Dept. Pediatrics, The Netherlands
Adv Exp Med Biol 466:371-6. 1999 - In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolismS H Moolenaar
Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
NMR Biomed 14:167-76. 2001..The paper shows that NMR spectroscopy in body fluids may help identifying unknown resonances observed in in vivo NMR spectra... - GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesisS Mercimek-Mahmutoglu
Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, Canada
Neurology 67:480-4. 2006..CONCLUSION: Guanidinoactetate methyltransferase deficiency should be considered in patients with unexplained intellectual disability, and urinary guanidinoacetate should be determined as an initial diagnostic approach... - Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann diseaseM R Baumgartner
Department of Pediatrics, Hopital Necker Enfants Malades, Paris, France
Neurology 51:1427-32. 1998..Characterization of the defect in a patient presenting a peripheral neuropathy with atypical features of distal motor involvement mimicking Werdnig-Hoffmann disease... - L-Arabinosuria: a new defect in human pentose metabolismW Onkenhout
Department of Pediatrics, Leiden University Medical Center LUMC, Building 1 P3 P, P O Box 9600, 2300 RC, Leiden, The Netherlands
Mol Genet Metab 77:80-5. 2002..Withdrawal of dietary fruit led to normalization of polyol levels. The above-mentioned clinical abnormalities are probably not related to this new inborn error of metabolism and should be considered as a separate entity...