Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase
Gibson, K. M., Schor, D. S. M., Gupta, M., Guerand, W. S., Senephansiri, H., Burlingame, T. G., Bartels, H., Hogema, B. M., Bottiglieri, T., Froestl, W., Snead, O. C., Grompe, M., Jakobs, C.
Published in Journal of neurochemistry (01.04.2002)
Published in Journal of neurochemistry (01.04.2002)
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Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen
Kölker, S, Hoffmann, G F, Schor, D S M, Feyh, P, Wagner, L, Jeffrey, I, Pourfarzam, M, Okun, J G, Zschocke, J, Baric, I, Bain, M D, Jakobs, C, Chalmers, R A
Published in Neuropediatrics (01.10.2003)
Published in Neuropediatrics (01.10.2003)
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Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid : application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias
GIBSON, K. M, TEN BRINK, H. J, SCHOR, D. S. M, KOK, R. M, BOOTSMA, A. H, HOFFMANN, G. F, JAKOBS, C
Published in Pediatric research (01.09.1993)
Published in Pediatric research (01.09.1993)
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Changes in the ornithine cycle following ionising radiation cause a cytotoxic conditioning of the culture medium of H35 hepatoma cells
VAN RIJN, J, VAN DEN BERG, J, TEERLINK, T, KRUYT, F. A. E, SCHOR, D. S. M, C. RENARDEL DE LAVALETTE, A, VAN DEN BERG, T. K, JAKOBS, C, SLOTMAN, B. J
Published in British journal of cancer (10.02.2003)
Published in British journal of cancer (10.02.2003)
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Formation of 2,3‐pristenic acid and 3‐hydroxypristanic acid from pristanic acid in human liver
Verhoeven, N. M., Schor, D. S. M., Jansen, G. A., Kok, R. M., Brink, H. J., Wanders, R. J. A., Jakobs, C.
Published in Journal of inherited metabolic disease (01.07.1997)
Published in Journal of inherited metabolic disease (01.07.1997)
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Conference Proceeding
Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2-ketophytanic acid from 2-hydroxyphytanic acid and its deficiency in the Zellweger syndrome
Wanders, R J, van Roermund, C W, Schor, D S, ten Brink, H J, Jakobs, C
Published in Journal of inherited metabolic disease (01.03.1995)
Published in Journal of inherited metabolic disease (01.03.1995)
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Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography–mass spectrometry
Schor, D.S.M, Verhoeven, N.M, Struys, E.A, ten Brink, H.J, Jakobs, C
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.11.2002)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.11.2002)
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Stable isotope studies of phytanic acid [alpha]-oxidation: in vivo production of formic acid
Verhoeven, N M, Schor, D S M, Previs, S F, Brunengraber, H, Jakobs, C
Published in European journal of pediatrics (01.07.1997)
Published in European journal of pediatrics (01.07.1997)
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Stable isotope studies of phytanic acid alpha-oxidation: in vivo production of formic acid
Verhoeven, N M, Schor, D S, Previs, S F, Brunengraber, H, Jakobs, C
Published in European journal of pediatrics (01.08.1997)
Published in European journal of pediatrics (01.08.1997)
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Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders
ten Brink, HJ, Schor, DS, Kok, RM, Poll-The, BT, Wanders, RJ, Jakobs, C
Published in Journal of lipid research (01.10.1992)
Published in Journal of lipid research (01.10.1992)
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Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders : stable isotope dilution analysis wih electron capture negative ion mass fragmentography
TEN BRINK, H. J, STELLAARD, F, VAN DEN HEUVEL, C. M. M, KOK, R. M, SCHOR, D. S. M, WANDERS, R. J. A, JAKOBS, C
Published in Journal of lipid research (1992)
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Published in Journal of lipid research (1992)
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In vivo study of phytanic acid α-oxidation in classic refsum's disease and chondrodysplasia punctata
TEN BRINK, H. J, SCHOR, D. S. M, KOK, R. M, STELLAARD, F, KNEER, J, POLL-THE, B. T, SAUDUBRAY, J.-M, JAKOBS, C
Published in Pediatric research (01.11.1992)
Published in Pediatric research (01.11.1992)
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