Dr. Nanda Verhoeven-Duif
DrNandaVerhoevenDuif1 










Head Diagnostic Laboratory
Department of Metabolic Diseases
University Medical Center Utrecht
Room KC.02.069.1
Lundlaan 6
3584 EA Utrecht
The Netherlands

phone: 088 - 75 542 94
fax: 088 - 75 542 95

e-mail: N.Verhoeven@umcutrecht.nl

Scientific education

1987-1993
Master (bio-)chemistry, Utrecht University. Research projects: biochemistry (prof. dr H. van den Bosch), clinical biochemistry (dr H.J.M. van Rijn and prof. dr J.H.H. Thijssen), Immunology (dr. H. Snippe).

11-9-1998
PhD medical faculty, VU University, Amsterdam.
Thesis ”The metabolism of phytanic acid and pristanic acid in relation to peroxisomal disorders”. Promotor: prof. dr R.B.H. Schutgens. Co-promotors: dr C. Jakobs, prof. dr R.J.A. Wanders

1998-2002
Clinical chemistry VU University Medical Centre

2003
Specialisation Inherited Metabolic Diseases

Dr. Nanda Verhoeven-Duif has been registered as clinical biochemist (with specialisation on inherited metabolic diseases) in the register of the Netherlands Society for Clinical Chemistry. Furthermore, she has a registration as a clinical biochemist in the register of the Netherlands Society for Human Genetics.

Current position

head Diagnostics Metabolic Diseases

Research interest

 
Dr. Verhoeven-Duif is project leader of the project: Amino acid and vitamin B6 metabolism in the central nervous system. She has a broad experience in the study of metabolism, applying metabolomics, functional assays and molecular biology to unravel new metabolic diseases and their mechanisms. She is leading an laboratory that is equipped with twelve mass spectrometers (Orbitrap MS, GC-MS, LC-MSMS and Q-TOF) and in which there is extensive knowledge on analytical chemistry. The large range of analytical platforms, including amino acids, organic acids, sugars and acylcarnitines in used for diagnostics of inborn errors of metabolism and for metabolic research.
Recently we published our new methods on the enantiomer selective analysis of amino acids and on the analysis of B6 vitamers (see publications).

Publications

  1. Albersen M, Groenendaal F, Van der Ham M, de Koning TJ, Bosma M, Visser WF, Visser, G, de Sain-van der Velden MGM, Verhoeven-Duif NM. Vitamin B6 vitamer concentrations in CSF differ between preterm and full term newborn infants. Pediatrics, in press 2012 (nr. 1 in field, IF 5.4)
  2. J.J. Luykx, C.H. Vinkers, S.C. Bakker, W. Visser, L. van Boxmeer, E. Strengman, K.R. van Eijk, J.A. Lens, P. Borgdorff, P. Keijzers, T. Kappen, E.P.A. van Dongen, P. Bruins, R.S. Kahn and R.A. Ophoff A common variant in ERBB4 regulates human GABA cerebrospinal fluid concentrations. Neuropsychopharmacology 2012 under review (top 10% journal ,IF 6.7)
  3. Visser WF, Verhoeven-Duif NM, de Koning TJ Identification of a human trans-3-hydroxy-L-proline dehydratase, the first characterized member of a novel family of proline racemase-like enzymes. J Biol Chem in press (top 25% journal, IF 5.3)
  4. Van der Ham M, Albersen M, De Koning TJ, Visser G, Middendorp A, Bosma M; Verhoeven-Duif NM, De Sain MGM. Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography - tandem mass spectrometry. Anal. Chim. Acta 2012 (top 10% journal, IF 4.3)
  5. Jeninga EH, De Vroede M, Hamers N, Breur JMPJ, Verhoeven-Duif NM, Berger R, Kalkhoven E. A patient with congenital generalized lipodystrophy due to a novel mutation in BSCL2: indications for secondary mitochondrial dysfunction. J. Inher. Metab. Dis in press 2012
  6. Albersen M, Van der Ham M, Verhoeven-Duif NM, Groenendaal F, de Sain-van der Velden MGM. In response to ‘J van den Bosch et al (2011) Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS. J Inherit Metab Dis 34: 1069-1073.
  7. Visser WF, Verhoeven-Duif NM, Ophoff R, Bakker S, Klomp LW, Berger R, de Koning TJ. A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids. J Chromatogr A. 2011;1218(40):7130-6. (top 10% journal IF 4.2)
  8. Van Veen MR, van Hasselt PM, de Sain-van der Velden MG, Verhoeven N, Hofstede FC, de Koning TJ, Visser G. Metabolic profiles in children during fasting. Pediatrics. 2011; 1021-7. (nr. 1 in field, IF 5.4)
  9. Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA. Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochim Biophys Acta. 2010;1802(11):1028-35.
  10. Keularts M.L.W., Rubio-Gozalbo E.M., Spaapen L.J.M., Dorland L., De Koning T.J. Verhoeven-Duif N.M. Fatal cerebral edema associated with serine deficiency in CSF. Ned Tijdschr Klin Chem Labgeneesk 2010; 35: 189-191
  11. Keularts IM, Leroy PL, Rubio-Gozalbo EM, Spaapen LJ, Weber B, Dorland B, de Koning TJ, Verhoeven-Duif N.M. Fatal cerebral edema associated with serine deficiency in CSF. J Inherit Metab Dis. 2010
  12. Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS. L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology. 2009;251(3):856-65.
  13. Debray FG, Boulanger Y, Khiat A, Decarie JC, Orquin J, Roy MS, Lortie A, Ramos F, Verhoeven NM, Struys E, Blom HJ, Jakobs C, Levy E, Mitchell GA, Lambert M.Reduced brain choline in homocystinuria due to remethylation defects. Neurology. 2008;71(1):44-9
  14. Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C. Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. J Inherit Metab Dis. 2007;30(5):735-42
  15. Mulder C, van der Flier WM, Veerhuis R, Bouwman F, Jakobs C, Verhoeven NM, Barkhof F, Scheltens P, Blankenstein MA. Association between vitamin B6 and white matter hyperintensities in patients with Alzheimer's disease not mediated by homocysteine metabolism. J Am Geriatr Soc. 2007;55(6):956-8.
  16. Penderis J, Calvin J, Abramson C, Jakobs C, Pettitt L, Binns MM, Verhoeven NM, O'Driscoll E, Platt SR, Mellersh CS. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet. 2007;44(5):334-40.
  17. Verbruggen KT, Knijff WA, Soorani-Lunsing RJ, Sijens PE, Verhoeven NM, Salomons GS, Goorhuis-Brouwer SM, van Spronsen FJ. Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation. Eur J Pediatr. 2007;166(9):921-925.
  18. Morris AA, Appleton RE, Power B, Isherwood DM, Abernethy LJ, Taylor RW, Turnbull DM, Verhoeven NM, Salomons GS, Jakobs C. Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. J Inherit Metab Dis. 2007;30(1):100.
  19. Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G, de Lonlay P, Jakobs C, Saudubray JM. Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.J Pediatr. 2006;149(5):713-7.
  20. Schulze A, Hoffmann GF, Bachert P, Kirsch S, Salomons GS, Verhoeven NM, Mayatepek E. Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology. 2006;67(4):719-21.
  21. Almeida LS, Rosenberg EH, Martinez-Munoz C, Verhoeven NM, Vilarinho L, Jakobs C, Salomons GS. Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.Mol Genet Metab. 2006;
  22. Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araujo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Muhl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 2006;67(3):480-4.
  23. van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE. High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment? Mol Genet Metab. 2006 ;89(3):274-276.
  24. Jung R, Rauch A, Salomons GS, Verhoeven NM, Jakobs C, Michael Gibson K, Lachmann E, Sass JO, Trautmann U, Zweier C, Staatz G, Knerr I. Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. Mol Genet Metab. 2006 ;88(3):256-60.
  25. Jansen EE, Verhoeven NM, Jakobs C, Schulze A, Senephansiri H, Gupta M, Snead OC, Gibson KM. Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency. Biochim Biophys Acta. 2006;1762(4):494-8.
  26. Struys EA, Verhoeven NM, Jansen EE, Ten Brink HJ, Gupta M, Burlingame TG, Quang LS, Maher T, Rinaldo P, Snead OC, Goodwin AK, Weerts EM, Brown PR, Murphy TC, Picklo MJ, Jakobs C, Gibson KM. Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase. Metabolism. 2006;55(3):353-8.
  27. Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C. D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? Mol Genet Metab. 2006;88(1):53-7.
  28. Read MH, Bonamy C, Laloum D, Belloy F, Constans JM, Guillois B, Kottler ML, Verhoeven NM, Jakobs C. Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. J Inherit Metab Dis. 2005;28(6):1149-50.
  29. Wamelink MM, Smith DE, Jakobs C, Verhoeven NM. Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism. J Inherit Metab Dis. 2005;28(6):951-63.
  30. Struys EA, Verhoeven NM, Ten Brink HJ, Wickenhagen WV, Gibson KM, Jakobs C. Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias. J Inherit Metab Dis. 2005;28(6):921-30.
  31. Jansen EE, Gibson KM, Shigematsu Y, Jakobs C, Verhoeven NM. A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2006;830(2):196-200.
  32. Verhoeven NM, Salomons GS, Jakobs C. Laboratory diagnosis of defects of creatine biosynthesis and transport. Clin Chim Acta. 2005 ;361(1-2):1-9. Review.
  33. Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorao R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat. 2005 ;26(4):395-6.
  34. Wamelink MM, Struys EA, Huck JH, Roos B, van der Knaap MS, Jakobs C, Verhoeven NM. Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. J Chromatogr B Analyt Technol Biomed Life Sci. 2005;823(1):18-25.
  35. Mulder C, Schoonenboom NS, Jansen EE, Verhoeven NM, van Kamp GJ, Jakobs C, Scheltens P. The transmethylation cycle in the brain of Alzheimer patients.Neurosci Lett. 2005;386(2):69-71.
  36. Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol. 2005 ;58(4):626-30. (top 10%, IF 10.7)
  37. Gan-Schreier H, Okun JG, Kohlmueller D, Langhans CD, Peters V, Ten Brink HJ, Verhoeven NM, Jakobs C, Voelkl A, Hoffmann GF. Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS). J Mass Spectrom. 2005 ;40(7):882-9.
  38. Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C.A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis. 2005;28(2):169-79.
  39. Caldeira Araujo H, Smit W, Verhoeven NM, Salomons GS, Silva S, Vasconcelos R, Tomas H, Tavares de Almeida I, Jakobs C, Duran M. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A. 2005;133(2):122-7.
  40. Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005;76(2):358-60. (top 10%, IF 11.7)
  41. Huck JH, Verhoeven NM, van Hagen JM, Jakobs C, van der Knaap MS. Clinical presentations of patients with polyol abnormalities. Neuropediatrics. 2004 ;35(3):167-73.
  42. Huck JH, Roos B, Jakobs C, van der Knaap MS, Verhoeven NM. Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism. Mol Genet Metab. 2004 ;82(3):231-7.
  43. Peduto A, Baumgartner MR, Verhoeven NM, Rabier D, Spada M, Nassogne MC, Poll The BT, Bonetti G, Jakobs C, Saudubray JM. Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. Mol Genet Metab. 2004 ;82(3):224-30.
  44. Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab. 2004 ;82(3):214-9.
  45. Struys EA, Jansen EE, Verhoeven NM, Jakobs C. Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride. Clin Chem. 2004 ;50(8):1391-5. (nr. 1 in field IF 6.9)
  46. Grossman CE, Niland B, Stancato C, Verhoeven NM, Van Der Knaap MS, Jakobs C, Brown LM, Vajda S, Banki K, Perl A. Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase. Biochem J. 2004;382(Pt 2):725-31.
  47. Zuurbier CJ, Eerbeek O, Goedhart PT, Struys EA, Verhoeven NM, Jakobs C, Ince C. Inhibition of the pentose phosphate pathway decreases ischemia-reperfusion-induced creatine kinase release in the heart. Cardiovasc Res. 2004;62(1):145-53.
  48. Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004;74(4):745-51. (top 10%, IF 11.7)
  49. Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C.Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. Clin Chem. 2004;50(2):441-3. (nr. 1 in field IF 6.9)
  50. Struys EA, Verhoeven NM, Brunengraber H, Jakobs C. Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria. FEBS Lett. 2004;557(1-3):115-20.
  51. Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD. L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. J Vet Intern Med. 2003 -;17(4):551-6.
  52. Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. X-linked creatine transporter defect: an overview. J Inherit Metab Dis. 2003;26(2-3):309-18. Review.
  53. Huck JH, Struys EA, Verhoeven NM, Jakobs C, van der Knaap MS.Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. Clin Chem. 2003 ;49(8):1375-80. (nr. 1 in field IF 6.9)
  54. Struys EA, Verhoeven NM, Roos B, Jakobs C. Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria. Clin Chem. 2003 ;49(7):1133-8. (nr. 1 in field IF 6.9)
  55. Verhoeven NM, Schor DS, Roos B, Battini R, Stockler-Ipsiroglu S, Salomons GS, Jakobs C. Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. Clin Chem. 2003 ;49(5):803-5. (nr. 1 in field IF 6.9)
  56. Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol. 2003;53(2):248-51. (top 10%, IF 10.7)
  57. Schor DS, Verhoeven NM, Struys EA, ten Brink HJ, Jakobs C.Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 ;780(1):199-204.
  58. Onkenhout W, Groener JE, Verhoeven NM, Yin C, Laan LA. L-Arabinosuria: a new defect in human pentose metabolism. Mol Genet Metab. 2002;77(1-2):80-5.
  59. Verhoeven NM, Jakobs C. Human metabolism of phytanic acid and pristanic acid. Prog Lipid Res. 2001;40(6):453-66. Invited review. (Top 10% IF 9.5)
  60. Moolenaar SH, van der Knaap MS, Engelke UF, Pouwels PJ, Janssen-Zijlstra FS, Verhoeven NM, Jakobs C, Wevers RA. In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. NMR Biomed. 2001 ;14(3):167-76.
  61. Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet. 2001 ;68(6):1497-500.
  62. Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet. 2001 ;68(5):1086-92. (top 10%, IF 11.7)
  63. Lopriore E, Gemke RJ, Verhoeven NM, Jakobs C, Wanders RJ, Roeleveld-Versteeg AB, Poll-The BT. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. Eur J Pediatr. 2001;160(2):101-4. Review.
  64. Cecil KM, Salomons GS, Ball WS Jr, Wong B, Chuck G, Verhoeven NM, Jakobs C, DeGrauw TJ. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol. 2001;49(3):401-4. (top 10%, IF 10.7)
  65. Verhoeven NM, Guerand WS, Struys EA, Bouman AA, van der Knaap MS, Jakobs C. Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall. J Inherit Metab Dis. 2000 ;23(8):835-40.
  66. Jansen GA, Denis S, Verhoeven NM, Jakobs C, Wanders RJ. Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome. J Inherit Metab Dis. 2000 ;23(4):421-4.
  67. Zomer AW, Jansen GA, Van Der Burg B, Verhoeven NM, Jakobs C, Van Der Saag PT, Wanders RJ, Poll-The BT. Phytanoyl-CoA hydroxylase activity is induced by phytanic acid. Eur J Biochem. 2000 ;267(13):4063-7.
  68. Van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, Stockler-Ipsiroglu S, Jakobs C. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol. 2000;47(4):540-3. (top 10%, IF 10.7)
  69. 69. Jansen GA, Ferdinandusse S, Hogenhout EM, Verhoeven NM, Jakobs C, Wanders RJ. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. Adv Exp Med Biol. 1999;466:371-6.
  70. Baumgartner MR, Jansen GA, Verhoeven NM, Mooyer PA, Jakobs C, Roels F, Espeel M, Fourmaintraux A, Bellet H, Wanders RJ, Saudubray JM. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. Ann Neurol. 2000;47(1):109-13.
  71. Neele DM, Kneepkens CM, Verhoeven NM, Jakobs C. Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib. J Inherit Metab Dis. 1999 ;22(8):936-7.
  72. van der Knaap MS, Wevers RA, Kure S, Gabreels FJ, Verhoeven NM, van Raaij-Selten B, Jaeken J. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. J Child Neurol. 1999 ;14(11):728-31.
  73. van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol. 1999 ;46(6):925-8.
  74. Jansen GA, Verhoeven NM, Denis S, Romeijn G, Jakobs C, ten Brink HJ, Wanders RJ. Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes. Biochim Biophys Acta. 1999;1440(2-3):176-82.
  75. Verhoeven NM, Schor DS, Struys EA, Jansen EE, ten Brink HJ, Wanders RJ, Jakobs C. Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry. J Lipid Res. 1999;40(2):260-6. (IF6.1)
  76. Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal. 1998 ;18(4-5):659-65.
  77. Verhoeven NM, Jakobs C, ten Brink HJ, Wanders RJ, Roe CR. Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis. J Inherit Metab Dis. 1998 ;21(7):753-60.
  78. Verhoeven NM, Wanders RJ, Poll-The BT, Saudubray JM, Jakobs C. The metabolism of phytanic acid and pristanic acid in man: a review. J Inherit Metab Dis. 1998 ;21(7):697-728. Review.
  79. Baumgartner MR, Poll-The BT, Verhoeven NM, Jakobs C, Espeel M, Roels F, Rabier D, Levade T, Rolland MO, Martinez M, Wanders RJ, Saudubray JM. Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol. 1998 ;44(5):720-30.
  80. Baumgartner MR, Verhoeven NM, Jakobs C, Roels F, Espeel M, Martinez M, Rabier D, Wanders RJ, Saudubray JM. Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. Neurology. 1998 ;51(5):1427-32. (top 10%, IF 8)
  81. Verhoeven NM, Jakobs C, Carney G, Somers MP, Wanders RJ, Rizzo WB. Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid. FEBS Lett. 1998;429(3):225-8.
  82. Verhoeven NM, Schor DS, Roe CR, Wanders RJ, Jakobs C. Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts. Biochim Biophys Acta. 1998;1391(3):351-6.
  83. Verhoeven NM, Roe DS, Kok RM, Wanders RJ, Jakobs C, Roe CR. Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. J Lipid Res. 1998;39(1):66-74.
  84. Verhoeven NM, Schor DS, Roe CR, Wanders RJ, Jakobs C. Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts. Biochim Biophys Acta. 1997;1361(3):281-6.
  85. Verhoeven NM, Wanders RJ, Schor DS, Jansen GA, Jakobs C. Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver. J Lipid Res. 1997 ;38(10):2062-70.
  86. Verhoeven NM, Schor DS, ten Brink HJ, Wanders RJ, Jakobs C. Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA. Biochem Biophys Res Commun. 1997;237(1):33-6.
  87. Verhoeven NM, Schor DS, Previs SF, Brunengraber H, Jakobs C. Stable isotope studies of phytanic acid alpha-oxidation: in vivo production of formic acid. Eur J Pediatr. 1997 ;156 Suppl 1:S83-7.
  88. Verhoeven NM, Schor DS, Jansen GA, Kok RM, ten Brink HJ, Wanders RJ, Jakobs C. Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver. J Inherit Metab Dis. 1997;20(3):441-3.
  89. Costa CG, Verhoeven NM, Kneepkens CM, Douwes AC, Wanders RJ, de Almeida IT, Duran M, Jakobs C. Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease. J Inherit Metab Dis. 1996;19(2):177-80.
  90. Verhoeven NM, Kulik W, van den Heuvel CM, Jakobs C. Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry. J Inherit Metab Dis. 1995;18 Suppl 1:45-60.
  91. Van Schaik RH, Verhoeven NM, Neijs FW, Aarsman AJ, Van den Bosch H. Cloning of the cDNA coding for 14 kDa group II phospholipase A2 from rat liver. Biochim Biophys Acta. 1993;1169(1):1-11.

Contributions to books


Jakobs C., Verhoeven N.M., Van der Knaap M.S. (1996, 2001) Various organic acidurias. In: A physician’s guide to the laboratory diagnosis of inherited metabolic disease, Blau, N., Duran, M. and Blaskovics, M. eds. Chapmann & Hall, London

DeGrauw TJ, Cecil KM, Chuck G, Verhoeven NM, Jakobs C, Salomons GS. (2005) X-linked creatine transporter deficiency: clinical aspects. In: Clinical and molecular aspects of defects in creatine and polyol metabolism Jakobs C, Stöckler-Ipsiroglu S, Verhoeven NM, Salomons GS, Editors. SPS Verlagsgesellschaft Heilbronn, Duitsland

Salomons GS, van Dooren SJM, Verhoeven NM, Schwartz CE, Marsden DL, Cecil KM, DeGrauw TJ, Jakobs C. (2005) X-linked creatine transporter deficiency: molecular and biochemical aspects. In: Clinical and molecular aspects of defects in creatine and polyol metabolism Jakobs C, Stöckler-Ipsiroglu S, Verhoeven NM, Salomons GS, Editors. SPS Verlagsgesellschaft Heilbronn, Duitsland 2005

Verhoeven NM. Huck JHJ, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. (2005) Inherited metabolic defects in pentose and polyol metabolism In: Clinical and molecular aspects of defects in creatine and polyol metabolism Jakobs C, Stöckler-Ipsiroglu S, Verhoeven NM, Salomons GS, Editors. SPS Verlagsgesellschaft Heilbronn, Duitsland

Verhoeven NM, Jakobs C. (2005) Defects in pentose metabolism. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition, electronic version.

Verhoeven NM, Jakobs C. (2006) Polyols. In: Laboratory Guide to the diagnosis of metabolic diseases, Blau N., Duran M. and Blaskovics M. eds. Chapmann & Hall, London In press

Verhoeven NM, Jakobs C. (2006) Disorders of the pentose phosphate pathway. In: Inborn metabolic diseases, diagnosis and treatment. Fernandez J, Saudubray JM, van den Berghe G. eds. Springer.

Bestuurlijke functies


  • Voorzitter commissie Erfelijke Metabole Ziekten NVKC/VKGL sinds 2006
  • Secretaris wetenschappelijk comité en lid organisatiecomité 41st annual symposium Society for the Study of Inborn Errors of Metabolism (SSIEM), Amsterdam 2004 (ca. 1000 deelnemers)
  • Lid wetenschappelijk comité najaarsvergadering Vereniging Erfelijke Stofwisselings¬ziekten Nederland 2002 en 2007
  • Lid registratiecommissie NVKC (2004-heden)
  • Lid opleidingscommissie NVKC (2007-2009)
  • Lid werkgroep Professionalisering VKGL (2008-2009)

Vakinhoudelijke functies

  • Opleider klinische chemie, specialisatie erfelijke metabole ziekten (NVKC)
  • Opleider klinisch biochemische genetica (VKGL)
  • Lid en secretaris Werkgroep ter Bestudering van Somatische Oorzaken van Zwakzinnigheid
  • Auditor-vakdeskundige Raad van Accreditatie
  • Lid beoordelingscommissie Tegelaersstipendium 2010

Onderwijs

  • Voorzitter nascholingscommissie Vereniging Erfelijke Stofwisselingsziekten Neder¬land (2002-2003)
  • Docent theoretisch lijnonderwijs co-assistenten (2006-heden)
  • Colleges en werkgroepen, studies Geneeskunde en Biomedische Wetenschappen
  • Tutor geneeskunde (2007-2010)
  • Docent Hogeschool Utrecht

Co-promoterschappen

  • april 2004: dr J.H.J. Huck: “Polyols: metabolism and inherited defects” (promotor: prof. dr. M.S. van der Knaap, kinderneuroloog)
  • december 2005: dr E.A. Struys: “D-2-hydroxyglutaric aciduria” (promotor: prof. dr. C. Jakobs)
  • november 2006: drs L. Almeida: “Molecular and biochemical diagnosis of cerebral creatine deficiency syndromes” (promotor: prof. dr C. Jakobs)




24-04-2012
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