Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency
Coenen, Marieke J.H, Antonicka, Hana, Ugalde, Cristina, Sasarman, Florin, Rossi, Rainer, Heister, J.G.A.M. Angelien, Newbold, Robert F, Trijbels, Frans J.M.F, van den Heuvel, Lambert P, Shoubridge, Eric A, Smeitink, Jan A.M
Published in The New England journal of medicine (11.11.2004)
Published in The New England journal of medicine (11.11.2004)
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Journal Article
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
Loeffen, J.L.C.M., Smeitink, J.A.M., Trijbels, J.M.F., Janssen, A.J.M., Triepels, R.H., Sengers, R.C.A., van den Heuvel, L.P.
Published in Human mutation (01.02.2000)
Published in Human mutation (01.02.2000)
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Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene
Budde, S.M.S., van den Heuvel, L.P.W.J., Janssen, A.J., Smeets, R.J.P., Buskens, C.A.F., DeMeirleir, L., Van Coster, R., Baethmann, M., Voit, T., Trijbels, J.M.F., Smeitink, J.A.M.
Published in Biochemical and biophysical research communications (18.08.2000)
Published in Biochemical and biophysical research communications (18.08.2000)
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Myopathology and a mitochondrial DNA deletion in the pearson marrow and pancreas syndrome
de Vries, D.D., Buzing, C.J.M., Ruitenbeek, W., van der Wouw, M.P.M.E., Sperl, W., Sengers, R.C.A., Trijbels, J.M.F., van Oost, B.A.
Published in Neuromuscular disorders : NMD (1992)
Published in Neuromuscular disorders : NMD (1992)
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Acyl-CoA oxidase activity and peroxisomal fatty acid oxidation in rat tissues
Reubsaet, F.A.G., Veerkamp, J.H., Bukkens, S.G.F., Trijbels, J.M.F., Monnens, L.A.H.
Published in Biochimica et biophysica acta (19.02.1988)
Published in Biochimica et biophysica acta (19.02.1988)
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cDNA of Eight Nuclear Encoded Subunits of NADH:Ubiquinone Oxidoreductase: Human Complex I cDNA Characterization Completed
Loeffen, J.L.C.M., Triepels, R.H., van den Heuvel, L.P., Schuelke, M., Buskens, C.A.F., Smeets, R.J.P., Trijbels, J.M.F., Smeitink, J.A.M.
Published in Biochemical and biophysical research communications (18.12.1998)
Published in Biochemical and biophysical research communications (18.12.1998)
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Journal Article
Clinical heterogeneity in respiratory chain complex III deficiency in childhood
Mourmans, J, Wendel, U, Bentlage, H.A.C.M, Trijbels, J.M.F, Smeitink, J.A.M, de Coo, I.F.M, Gabreëls, F.J.M, Sengers, R.C.A, Ruitenbeek, W
Published in Journal of the neurological sciences (01.07.1997)
Published in Journal of the neurological sciences (01.07.1997)
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Journal Article
Pyruvate oxidation in rat and human skeletal muscle mitochondria
Bookelman, H., Trijbels, J.M.F., Sengers, R.C.A., Janssen, A.J.M., Veerkamp, J.H., Stadhouders, A.M.
Published in Biochemical medicine (01.12.1978)
Published in Biochemical medicine (01.12.1978)
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Journal Article
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency
Rubio-Gozalbo, M.E, Heerschap, A, Trijbels, J.M.F, Meirleir, L.De, Thijssen, H.O.M, Smeitink, J.A.M
Published in Magnetic resonance imaging (01.07.1999)
Published in Magnetic resonance imaging (01.07.1999)
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Journal Article
The involvement of fatty acid binding protein in peroxisomal fatty acid oxidation
Reubsaet, F.A.G., Veerkamp, J.H., Brückwilder, M.L.P., Trijbels, J.M.F., Monnens, L.A.H.
Published in FEBS letters (16.07.1990)
Published in FEBS letters (16.07.1990)
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High-dose 6-mercaptopurine infusions and tumor lysis syndrome
Keuzenkamp-Jansen, C.W., Bökkerink, J.P.M., De Abreu, R.A., Trijbels, J.M.F.
Published in Leukemia research (01.07.1995)
Published in Leukemia research (01.07.1995)
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Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia
Blom, H J, Boers, G H, Trijbels, J M, van Roessel, J J, Tangerman, A
Published in Metabolism, clinical and experimental (01.06.1989)
Published in Metabolism, clinical and experimental (01.06.1989)
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Serum very long chain fatty acid pattern in Zellweger syndrome
Bakkeren, J.A.J.M., Monnens, L.A.H., Trijbels, J.M.F., Maas, J.M.
Published in Clinica chimica acta (27.04.1984)
Published in Clinica chimica acta (27.04.1984)
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