An update on serine deficiency disorders
van der Crabben, S. N., Verhoeven-Duif, N. M., Brilstra, E. H., Van Maldergem, L., Coskun, T., Rubio-Gozalbo, E., Berger, R., de Koning, T. J.
Published in Journal of inherited metabolic disease (01.07.2013)
Published in Journal of inherited metabolic disease (01.07.2013)
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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
Schulze, A, Hoffmann, G F, Bachert, P, Kirsch, S, Salomons, G S, Verhoeven, N M, Mayatepek, E
Published in Neurology (22.08.2006)
Published in Neurology (22.08.2006)
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GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis
Mercimek-Mahmutoglu, S, Stoeckler-Ipsiroglu, S, Adami, A, Appleton, R, Araújo, H Caldeira, Duran, M, Ensenauer, R, Fernandez-Alvarez, E, Garcia, P, Grolik, C, Item, C B, Leuzzi, V, Marquardt, I, Mühl, A, Saelke-Kellermann, R A, Salomons, G S, Schulze, A, Surtees, R, van der Knaap, M S, Vasconcelos, R, Verhoeven, N M, Vilarinho, L, Wilichowski, E, Jakobs, C
Published in Neurology (08.08.2006)
Published in Neurology (08.08.2006)
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Journal Article
X‐linked creatine transporter defect: An overview
Salomons, G. S., Van Dooren, S. J. M., Verhoeven, N. M., Marsden, D., Schwartz, C., Cecil, K. M., DeGrauw, T. J., Jakobs, C.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry
Prinsen, Hubertus C. M. T., Schiebergen-Bronkhorst, B. G. M., Roeleveld, M. W., Jans, J. J. M., de Sain-van der Velden, M. G. M., Visser, G., van Hasselt, P. M., Verhoeven-Duif, N. M.
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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Journal Article
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase : Relevance to d-2-hydroxyglutaric and γ-hydroxybutyric acidurias
STRUYS, E. A, VERHOEVEN, N. M, TEN BRINK, H. J, WICKENHAGEN, W. V, GIBSON, K. M, JAKOBS, C
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Reduced brain choline in homocystinuria due to remethylation defects
Debray, F-G, Boulanger, Y, Khiat, A, Decarie, J-C, Orquin, J, Roy, M-S, Lortie, A, Ramos, F, Verhoeven, N M, Struys, E, Blom, H J, Jakobs, C, Levy, E, Mitchell, G A, Lambert, M
Published in Neurology (01.07.2008)
Published in Neurology (01.07.2008)
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Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism
Wamelink, M. M. C., Smith, D. E. C., Jakobs, C., Verhoeven, N. M.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry
van der Ham, M., Albersen, M., de Koning, T.J., Visser, G., Middendorp, A., Bosma, M., Verhoeven-Duif, N.M., de Sain-van der Velden, M.G.M.
Published in Analytica chimica acta (27.01.2012)
Published in Analytica chimica acta (27.01.2012)
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Journal Article
The metabolism of phytanic acid and pristanic acid in man: A review
Verhoeven, N. M., Wanders, R. J. A., Poll‐The, B. T., Saudubray, J.‐M., Jakobs, C.
Published in Journal of inherited metabolic disease (01.10.1998)
Published in Journal of inherited metabolic disease (01.10.1998)
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Journal Article
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
Read, M.‐H., Bonamy, C., Laloum, D., Belloy, F., Constans, J. M., Guillois, B., Kottler, M.‐L., Verhoeven, N. M., Jakobs, C.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Leukoencephalopathy associated with a disturbance in the metabolism of polyols
Van Der Knaap, M. S., Wevers, R. A., Struys, E. A., Verhoeven, N. M., Pouwels, P. J. W., Engelke, U. F. H., Feikema, W., Valk, J., Jakobs, C.
Published in Annals of neurology (01.12.1999)
Published in Annals of neurology (01.12.1999)
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Journal Article
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation
Araújo, H. Caldeira, Smit, W., Verhoeven, N.M., Salomons, G.S., Silva, S., Vasconcelos, R., Tomás, H., Almeida, I. Tavares de, Jakobs, C., Duran, M.
Published in American journal of medical genetics. Part A (01.03.2005)
Published in American journal of medical genetics. Part A (01.03.2005)
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Journal Article
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
Verhoeven, N. M., Wallot, M., Huck, J. H. J., Dirsch, O., Ballauf, A., Neudorf, U., Salomons, G. S., der Knaap, M. S., Voit, T., Jakobs, C.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
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Journal Article
An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
Struys, E.A., Jansen, E.E.W., ten Brink, H.J., Verhoeven, N.M., van der Knaap, M.S., Jakobs, C.
Published in Journal of pharmaceutical and biomedical analysis (01.12.1998)
Published in Journal of pharmaceutical and biomedical analysis (01.12.1998)
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Conference Proceeding
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)
Gan-Schreier, H., Okun, J. G., Kohlmueller, D., Langhans, C.-D., Peters, V., ten Brink, H. J., Verhoeven, N. M., Jakobs, C., Voelkl, A., Hoffmann, G. F.
Published in Journal of mass spectrometry. (01.07.2005)
Published in Journal of mass spectrometry. (01.07.2005)
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Journal Article
Clinical approach to inherited peroxisomal disorders: a series of 27 patients
Baumgartner, M R, Poll-The, B T, Verhoeven, N M, Jakobs, C, Espeel, M, Roels, F, Rabier, D, Levade, T, Rolland, M O, Martinez, M, Wanders, R J, Saudubray, J M
Published in Annals of neurology (01.11.1998)
Published in Annals of neurology (01.11.1998)
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