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Results: 1-10 |
Results: 10
Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae
Authors: van Roermund, CWT Drissen, R van den Berg, M Ijlst, L Hettema, EH Tabak, HF Waterham, HR Wanders, RJA
Citation: Cwt. Van Roermund et al., Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae, MOL CELL B, 21(13), 2001, pp. 4321-4329
Clinical, biochemical and molecular genetic characteristics of 19 patientswith the Sjogren-Larsson syndrome
Authors: Willemsen, MAAP Ijlst, L Steijlen, PM Rotteveel, JJ de Jong, JGN van Domburg, PHMF Mayatepek, E Gabreels, FJM Wanders, RJA
Citation: Maap. Willemsen et al., Clinical, biochemical and molecular genetic characteristics of 19 patientswith the Sjogren-Larsson syndrome, BRAIN, 124, 2001, pp. 1426-1437
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast
Authors: Ijlst, L van Roermund, CWT Iacobazzi, V Oostheim, W Ruiter, JPN Williams, JC Palmieri, F Wanders, RJA
Citation: L. Ijlst et al., Functional analysis of mutant human carnitine acylcarnitine translocases in yeast, BIOC BIOP R, 280(3), 2001, pp. 700-706
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
Authors: Watanabe, H Orii, KE Fukao, T Song, XQ Aoyama, T Ijlst, L Ruiter, J Wanders, RJA Kondo, N
Citation: H. Watanabe et al., Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping, HUM MUTAT, 15(5), 2000, pp. 430-438
Heterozygosity for the common LCHAD mutation (1528G > C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low
Authors: Den Boer, MEJ Ijlst, L Wijburg, FA Oostheim, W Van Werkhoven, MA Van Pampus, MG Heymans, HSA Wanders, RJA
Citation: Mej. Den Boer et al., Heterozygosity for the common LCHAD mutation (1528G > C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low, PEDIAT RES, 48(2), 2000, pp. 151-154
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase
Authors: Ferdinandusse, S Denis, S Ijlst, L Dacremont, G Waterham, HR Wanders, RJA
Citation: S. Ferdinandusse et al., Subcellular localization and physiological role of alpha-methylacyl-CoA racemase, J LIPID RES, 41(11), 2000, pp. 1890-1896
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase proteindeficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities
Authors: de Vet, ECJM Ijlst, L Oostheim, W Dekker, C Moser, HW van den Bosch, H Wanders, RJA
Citation: Ecjm. De Vet et al., Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase proteindeficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities, J LIPID RES, 40(11), 1999, pp. 1998-2003
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjogren-Larsson syndrome
Authors: Willemsen, MAAP Steijlen, PM de Jong, JGN Rotteveel, JJ Ijlst, L van Werkhoven, MA Wanders, RJA
Citation: Maap. Willemsen et al., A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjogren-Larsson syndrome, J INVES DER, 112(5), 1999, pp. 827-828
Quantitative acylcarnitine profiling in fibroblasts using [U-C-13] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects
Authors: Ventura, FV Costa, CG Struys, EA Ruiter, J Allers, P Ijlst, L de Almeida, T Duran, M Jakobs, C Wanders, RJA
Citation: Fv. Ventura et al., Quantitative acylcarnitine profiling in fibroblasts using [U-C-13] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects, CLIN CHIM A, 281(1-2), 1999, pp. 1-17
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
Authors: Andresen, BS Olpin, S Poorthuis, BJHM Scholte, HR Vianey-Saban, C Wanders, R Ijlst, L Morris, A Pourfarzam, M Bartlett, K Baumgartner, ER deKlerk, JBC Schroeder, LD Corydon, TJ Lund, H Winter, V Bross, P Bolund, L Gregersen, N
Citation: Bs. Andresen et al., Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency, AM J HU GEN, 64(2), 1999, pp. 479-494
Risultati: 1-10 |