Author: "Verhoeven, N. M." / Database: Journals@OVID - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Verhoeven, N. M."' showing total 9 results

Start Over Author "Verhoeven, N. M." Database Journals@OVID

9 results on '"Verhoeven, N. M."'

1. Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine

Author: Wamelink, M. M., Smith, D. E., Jansen, E. E., Verhoeven, N. M., Struys, E. A., and Jakobs, C.
Published: 2007

2. Novel L2HGDH Mutations in 21 Patients With L-2-hydroxyglutaric Aciduria of Portuguese Origin

Author: Vilarinho, L., Cardoso, M. L., Gaspar, P., Barbot, C., Azevedo, L., Diogo, L., Santos, M., Carrilho, I., Fineza, I., Kok, F., Chorão, R., Alegria, P., Martins, E., Teixeira, J., Fernandes, H. Cabral, Verhoeven, N. M., Salomons, G. S., Santorelli, F. M., Cabral, P., Amorim, A., and Jakobs, C.
Published: 2005
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3. 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

Author: Read, M.-H., Bonamy, C., Laloum, D., Belloy, F., Constans, J. M., Guillois, B., Kottler, M.-L., Verhoeven, N. M., and Jakobs, C.
Published: 2005

4. Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: Relevance to D-2-hydroxyglutaric and γ-hydroxybutyric acidurias

Author: Struys, E. A., Verhoeven, N. M., ten Brink, H. J., Wickenhagen, W. V., Gibson, K. M., and Jakobs, C.
Published: 2005

5. Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism

Author: Wamelink, M. M. C., Smith, D. E. C., Jakobs, C., and Verhoeven, N. M.
Published: 2005

6. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

Author: Verhoeven, N. M., Wallot, M., Huck, J. H.J., Dirsch, O., Ballauf, A., Neudorf, U., Salomons, G. S., van der Knaap, M. S., Voit, T., and Jakobs, C.
Published: 2005

7. X-linked creatine transporter defect: An overview

Author: Salomons, G. S., van Dooren, S. J. M., Verhoeven, N. M., Marsden, D., Schwartz, C., Cecil, K. M., DeGrauw, T. J., and Jakobs, C.
Published: 2003

8. Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall

Author: Verhoeven, N. M., Guérand, W. S., Struys, E. A., Bouman, A. A., van der Knaap, M. S., and Jakobs, C.
Published: 2000

9. Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome

Author: Jansen, G A, Denis, S, Verhoeven, N M, Jakobs, C, and Wanders, R J. A
Published: 2000

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