N M Verhoeven

Summary

Affiliation: University Hospital Vrije Universiteit
Country: The Netherlands

Publications

  1. pmc Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
    N M Verhoeven
    Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, 1007 MB Amsterdam, The Netherlands
    Am J Hum Genet 68:1086-92. 2001
  2. ncbi A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
    N M Verhoeven
    Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 28:169-79. 2005
  3. ncbi Human metabolism of phytanic acid and pristanic acid
    N 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
  4. ncbi Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts
    N 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
  5. ncbi 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
  6. ncbi X-linked creatine transporter defect: an overview
    G S Salomons
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 26:309-18. 2003
  7. ncbi Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias
    E 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
  8. ncbi Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
    L S Almeida
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 89:392-4. 2006
  9. ncbi Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine
    M 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
  10. ncbi Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism
    M M C Wamelink
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 28:951-63. 2005

Collaborators

Detail Information

Publications23

  1. pmc Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
    N 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...
  2. ncbi A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
    N 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...
  3. ncbi Human metabolism of phytanic acid and pristanic acid
    N 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...
  4. ncbi Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts
    N 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...
  5. ncbi 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...
  6. ncbi X-linked creatine transporter defect: an overview
    G 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...
  7. ncbi Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias
    E 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...
  8. ncbi Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
    L 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)...
  9. ncbi Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine
    M 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...
  10. ncbi Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism
    M 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...
  11. ncbi Clinical presentations of patients with polyol abnormalities
    J 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...
  12. ncbi Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease
    C G Costa
    Department of Clinical Chemistry, Free University Hospital, Amsterdam, The Netherlands
    J Inherit Metab Dis 19:177-80. 1996
  13. ncbi Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall
    N 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...
  14. ncbi Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter
    M 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...
  15. ncbi Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry
    D 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...
  16. pmc X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome
    G 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...
  17. ncbi Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome
    E Lopriore
    Department of Paediatrics, Academic Hospital Free University, Amsterdam, The Netherlands
    Eur J Pediatr 160:101-4. 2001
    ..Although phenotype and residual enzyme activity have been suggested to be related to outcome, we were not able to establish such a relationship...
  18. ncbi Inhibition of the pentose phosphate pathway decreases ischemia-reperfusion-induced creatine kinase release in the heart
    C 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...
  19. ncbi Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease
    G A Jansen
    University of Amsterdam, Dept Pediatrics, The Netherlands
    Adv Exp Med Biol 466:371-6. 1999
  20. ncbi In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism
    S 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...
  21. ncbi GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis
    S Mercimek-Mahmutoglu
    Division of Biochemical Diseases, British Columbia Children s Hospital, Vancouver, Canada
    Neurology 67:480-4. 2006
    ..Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and molecular findings in 27 patients...
  22. ncbi Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease
    M 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...
  23. ncbi L-Arabinosuria: a new defect in human pentose metabolism
    W 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...