Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts
Hunt, M. C., Ruiter, J., Mooyer, P., Van Roermond, C. W. T., Ofman, R., Ijlst, L., Wanders, R. J. A.
Published in European journal of clinical investigation (01.01.2005)
Published in European journal of clinical investigation (01.01.2005)
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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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Journal Article
High-affinity binding of very-long-chain fatty acyl-CoA esters to the peroxisomal non-specific lipid-transfer protein (sterol carrier protein-2)
Dansen, T B, Westerman, J, Wouters, F S, Wanders, R J, van Hoek, A, Gadella, Jr, T W, Wirtz, K W
Published in Biochemical journal (01.04.1999)
Published in Biochemical journal (01.04.1999)
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Journal Article
Molecular Cloning and Expression of Human L-Pipecolate Oxidase
IJlst, Lodewijk, de Kromme, Isabella, Oostheim, Wendy, Wanders, Ronald J.A.
Published in Biochemical and biophysical research communications (21.04.2000)
Published in Biochemical and biophysical research communications (21.04.2000)
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Journal Article
Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT): Cloning of the Human SCOT Gene, Tertiary Structural Modeling of the Human SCOT Monomer, and Characterization of Three Pathogenic Mutations
Fukao, Toshiyuki, Mitchell, Grant A., Song, Xiang-Qian, Nakamura, Haruki, Kassovska-Bratinova, Sacha, Orii, Kenji E., Wraith, James E., Besley, Guy, Wanders, Ronald J.A., Niezen-Koning, Klary E., Berry, Gerard T., Palmieri, Michael, Kondo, Naomi
Published in Genomics (San Diego, Calif.) (01.09.2000)
Published in Genomics (San Diego, Calif.) (01.09.2000)
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Journal Article
Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome
SCHWAB, Karl Otfried, ENSENAUER, Regina, MATERN, Dietrich, UYANIK, Gökhan, SCHNIEDERS, Birgit, WANDERS, Ronald J. A, LEHNERT, Willy
Published in European journal of pediatrics (01.02.2003)
Published in European journal of pediatrics (01.02.2003)
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Journal Article
Functional Heterogeneity of C-Terminal Peroxisome Targeting Signal 1 in PEX5-Defective Patients
Shimozawa, Nobuyuki, Zhang, Zhongyi, Suzuki, Yasuyuki, Imamura, Atsushi, Tsukamoto, Toshiro, Osumi, Takashi, Fujiki, Yukio, Orii, Tadao, Barth, Peter G, Wanders, Ronald J.A, Kondo, Naomi
Published in Biochemical and biophysical research communications (27.08.1999)
Published in Biochemical and biophysical research communications (27.08.1999)
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Journal Article
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities
de Vet, E C, Ijlst, L, Oostheim, W, Dekker, C, Moser, H W, van Den Bosch, H, Wanders, R J
Published in Journal of lipid research (01.11.1999)
Published in Journal of lipid research (01.11.1999)
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Journal Article
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome
Langius, Fernanda A.A., Waterham, Hans R., Romeijn, Gerrit Jan, Oostheim, Wendy, de Barse, Martina M.J., Dorland, Lambertus, Duran, Marinus, Beemer, Frits A., Wanders, Ronald J.A., Poll-The, Bwee Tien
Published in American journal of medical genetics. Part A (15.09.2003)
Published in American journal of medical genetics. Part A (15.09.2003)
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Journal Article
Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights
Wanders, Ronald J A, van Roermund, Carlo W T, Visser, Wouter F, Ferdinandusse, Sacha, Jansen, Gerbert A, van den Brink, Daan M, Gloerich, Jolein, Waterham, Hans R
Published in Advances in experimental medicine and biology (2003)
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Published in Advances in experimental medicine and biology (2003)
Journal Article
Genetic Basis of Peroxisome-Assembly Mutants of Humans, Chinese Hamster Ovary Cells, and Yeast: Identification of a New Complementation Group of Peroxisome-Biogenesis Disorders Apparently Lacking Peroxisomal-Membrane Ghosts
Shimozawa, Nobuyuki, Suzuki, Yasuyuki, Zhang, Zhongyi, Imamura, Atsushi, Kondo, Naomi, Kinoshita, Naohiko, Fujiki, Yukio, Tsukamoto, Toshiro, Osumi, Takashi, Imanaka, Tsuneo, Orii, Tadao, Beemer, Frits, Mooijer, Petra, Dekker, Conny, Wanders, Ronald J.A.
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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Journal Article
Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS
Silva, Margarida F.B, Selhorst, J, Overmars, Henk, van Gennip, Albert H, Maya, Manuela, Wanders, Ronald J.A, de Almeida, Isabel Tavares, Duran, Marinus
Published in Clinical biochemistry (01.11.2001)
Published in Clinical biochemistry (01.11.2001)
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Journal Article
Resolution of the Phytanic Acid α-Oxidation Pathway: Identification of Pristanal as Product of the Decarboxylation of 2-Hydroxyphytanoyl-CoA
Verhoeven, N.M., Schor, D.S.M., ten Brink, H.J., Wanders, R.J.A., Jakobs, C.
Published in Biochemical and biophysical research communications (08.08.1997)
Published in Biochemical and biophysical research communications (08.08.1997)
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Journal Article
Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method
Ferdinandusse, S, Denis, S, van Berkel, E, Dacremont, G, Wanders, R J
Published in Journal of lipid research (01.03.2000)
Published in Journal of lipid research (01.03.2000)
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Journal Article
Isolation, Characterization and Mutation Analysis of PEX13-Defective Chinese Hamster Ovary Cell Mutants
Toyama, Ryusuke, Mukai, Satoru, Itagaki, Atsushi, Tamura, Shigehiko, Shimozawa, Nobuyuki, Suzuki, Yasuyuki, Kondo, Naomi, Wanders, Ronald J. A., Fujiki, Yukio
Published in Human molecular genetics (01.09.1999)
Published in Human molecular genetics (01.09.1999)
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Journal Article
Differential Deficiency of Mevalonate Kinase and Phosphomevalonate Kinase in Patients with Distinct Defects in Peroxisome Biogenesis: Evidence for a Major Role of Peroxisomes in Cholesterol Biosynthesis
Wanders, Ronald J.A., Romeijn, Gerrit-Jan
Published in Biochemical and biophysical research communications (29.06.1998)
Published in Biochemical and biophysical research communications (29.06.1998)
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