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Results: 1-8 |
Results: 8
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects
Authors: Onkenhout, W Venizelos, V Scholte, HR de Klerk, JBC Poorthuis, BJHM
Citation: W. Onkenhout et al., Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects, J INH MET D, 24(3), 2001, pp. 337-344
Cognitive behaviour therapy for chronic fatigue syndrome
Authors: Vermeulen, RCW Scholte, HR Bezemer, PD
Citation: Rcw. Vermeulen et al., Cognitive behaviour therapy for chronic fatigue syndrome, LANCET, 358(9277), 2001, pp. 238-238
Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit
Authors: Williams, SL Scholte, HR Gray, RGF Leonard, JV Schapira, AHV Taanman, JW
Citation: Sl. Williams et al., Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit, LAB INV, 81(8), 2001, pp. 1069-1077
Characterization of a novel mitochondrial DNA deletion in a patient with avariant of the Pearson marrow-pancreas syndrome
Authors: van den Ouweland, JMW de Klerk, JBC van de Corput, MP Dirks, RW Raap, AK Scholte, HR Huijmans, JGM Hart, LMT Bruining, GJ Maassen, JA
Citation: Jmw. Van Den Ouweland et al., Characterization of a novel mitochondrial DNA deletion in a patient with avariant of the Pearson marrow-pancreas syndrome, EUR J HUM G, 8(3), 2000, pp. 195-203
Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: Effect of treatment
Authors: Huijmans, JGM Duran, M de Klerk, JBC Rovers, MJ Scholte, HR
Citation: Jgm. Huijmans et al., Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: Effect of treatment, PEDIATRICS, 106(3), 2000, pp. 596-600
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype
Authors: Scholte, HR Van Coster, RNA de Jonge, PC Poorthuis, BJHM Jeneson, JAL Andresen, BS Gregersen, N de Klerk, JBC Busch, HFM
Citation: Hr. Scholte et al., Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype, NEUROMUSC D, 9(5), 1999, pp. 313-319
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency
Authors: Vaz, FM Scholte, HR Ruiter, J Hussaarts-Odijk, LM Pereira, RR Schweitzer, S de Klerk, JBC Waterham, HR Wanders, RJA
Citation: Fm. Vaz et al., Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency, HUM GENET, 105(1-2), 1999, pp. 157-161
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: 1-8 |