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Citation: F. Sprangers et al., Subnormal response of plasma glucose concentration to glucagon despite adequate glycogenolysis: the importance of kinetic measurements, EUR J PED, 160(3), 2001, pp. 185-188

Authors: Aalfs, CM Salieb-Beugelaar, GB Wanders, RJA Mannens, MMAM Wijburg, FA

Citation: Cm. Aalfs et al., A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis, HUM MUTAT, 16(1), 2000, pp. 18-22

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

Authors: Triepels, RH van den Heuvel, LP Loeffen, JLCM Buskens, CAF Smeets, RJP Gozalbo, MER Budde, SMS Mariman, EC Wijburg, FA Barth, PG Trijbels, JMF Smeitink, JAM

Citation: Rh. Triepels et al., Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I, ANN NEUROL, 45(6), 1999, pp. 787-790

Authors: Aalfs, CM Hoovers, JMN Wijburg, FA

Citation: Cm. Aalfs et al., Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome, AM J MED G, 86(4), 1999, pp. 398-400

Authors: Wanders, RJA Vreken, P den Boer, MEJ Wijburg, FA van Gennip, AH IJlst, L

Citation: Rja. Wanders et al., Disorders of mitochondrial fatty acyl-CoA beta-oxidation, J INH MET D, 22(4), 1999, pp. 442-487