Inforn errors of cellular organelles: proceedings. I/24th. Annual meeting of the Society for the Study of Inforn Errors of Metabolism, Amersfoort, 9-12 September 1986WADMAN, S. K; DURAN, M.Journal of inherited metabolic disease. 1987, Vol 10, pp 1-200, issn 0141-8955, suppl. 1Conference Proceedings

Quantitative gas chromatographic determination of urinary hydantoin-5-propionic acid in patients with disorders and folate/vitamin B₁₂ metabolismDURAN, M; BRUINVIS, L; WADMAN, S. K et al.Journal of chromatography. 1986, Vol 381, Num 2, pp 401-405, issn 0021-9673Article

The occurrence of lactyl lactate and succinyl lactate in the urine of patients screened for inherited metabolic diseaseKETTING, D; WADMAN, S. K; BRUINWIS, L et al.Clinica chimica acta. 1985, Vol 146, Num 1, pp 29-35, issn 0009-8981Article

1,6-Anhydro-β-D-glucopyranose (β-glucosan), a constituent of human urineDORLAND, L; WADMAN, S. K; DE JONGE, H. F et al.Clinica chimica acta. 1986, Vol 159, Num 1, pp 11-16, issn 0009-8981Article

The identification of acylcarnitines by desorption chemical ionization mass spectrometryDURAN, M; KETTING, D; DORLAND, L et al.Journal of inherited metabolic disease. 1985, Vol 8, pp 143-144, issn 0141-8955, suppl. 2Article

Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiencyDURAN, M; BRUINVIS, L; KETTING, D et al.Clinical chemistry (Baltimore, Md.). 1988, Vol 34, Num 3, pp 548-551, issn 0009-9147Article

Direct identification of propionylcarnitine in propionic acidaemia: biochemical and clinical results of oral carnitine supplementationDURAN, M; KETTING, D; BECKENINGH, T. E et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 2, pp 202-207, issn 0141-8955Article

Determination of acidic catecholamine metabolites in plasma and cerebrospinal fluid using gas chromatography―negative-ion mass spectrometryDE JONG, A. P. J. M; KOK, R. M; CRAMERS, C. A et al.Journal of chromatography. 1986, Vol 382, pp 19-30, issn 0021-9673Article

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria: an inborn error of pyrimidine metabolismWADMAN, S. K; BERGER, R; DURAN, M et al.Journal of inherited metabolic disease. 1985, Vol 8, pp 113-114, issn 0141-8955, suppl. 2Article

Clinical and biochemical studies of high-dose thymidine treatment in patients with solid tumorsLEYVA, A; SCHORNAGEL, J. H; KRAAL, I et al.Journal of cancer research and clinical oncology. 1984, Vol 107, Num 3, pp 211-216, issn 0171-5216Article

The differential diagnosis of dicarboxylic aciduriaDURAN, M; DE KLERK, J. B. C; WADMAN, S. K et al.Journal of inherited metabolic disease. 1984, Vol 7, pp 48-51, issn 0141-8955, suppl. 1Article

Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenaseWADMAN, S. K; DURAN, M; SMIT, G. P. A et al.Journal of inherited metabolic disease. 1983, Vol 6, pp 78-83, issn 0141-8955, suppl. 1Article

Identification of the stereoisomeric configurations of methylcitric acid produced by si-citrate synthase and methylcitrate synthase using capillary gas chromatography-mass spectrometryVAN ROOYEN, J. P. G; MIENIE, L. J; ERASMUS, E et al.Journal of inherited metabolic disease. 1994, Vol 17, Num 6, pp 738-747, issn 0141-8955Article

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes of platelets using a simple spectrophotometric methodWANDERS, R. J. A; ZOETERS, P. H. M; SCHUTGENS, R. B. H et al.Clinica chimica acta. 1990, Vol 189, Num 3, pp 327-334, issn 0009-8981, 8 p.Article

D-glyceric acidemia: an inborn error associated with fructose metabolismDURAN, M; BEEMER, F. A; BRUINVIS, L et al.Pediatric research. 1987, Vol 21, Num 5, pp 502-506, issn 0031-3998Article

Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purinesDE BREE, P. K; WADMAN, S. K; DURAN, M et al.Clinica chimica acta. 1986, Vol 156, Num 3, pp 279-287, issn 0009-8981Article

Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiencyERASMUS, C; MIENIE, L. J; REINECKE, C. J et al.Journal of inherited metabolic disease. 1985, Vol 8, pp 105-106, issn 0141-8955, suppl. 2Article

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyriaPICAT, C; DELFAU, M. H; DE ROOIJ, F. W. M et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 5, pp 684-686, issn 0141-8955, 3 p.Article

O-Phosphohydroxylysinuria : a new inborn error of metabolism ?DORLAND, L; DURAN, M; DE BREE, P. K et al.Clinica chimica acta. 1990, Vol 188, Num 3, pp 221-226, issn 0009-8981, 6 p.Article

3-methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme a hydratase is normalGIBSON, K. M; NYHAN, W. L; DURAN, M et al.European journal of pediatrics. 1988, Vol 148, Num 1, pp 76-82, issn 0340-6199Article

A new case of purine nucleoside phosphorylase deficiency: enzymologic, clnical, and immunologic characteristicsRIJKSEN, G; KUIS, W; WADMAN, S. K et al.Pediatric research. 1987, Vol 21, Num 2, pp 137-141, issn 0031-3998Article

Urinary D-4-hydroxyphenyllactate, D-phenyllactate and D-2-hydroxyisocaproate, abnormalities of bacterial originSPAAPEN, L. J. M; KETTING, D; WADMAN, S. K et al.Journal of inherited metabolic disease. 1987, Vol 10, Num 4, pp 383-390, issn 0141-8955Article

Urinary excretion of 2-methyl-2,3-butanediol and 2,3-pentanediol in patients with disorders of propionate and methylmalonate metabolismDURAN, M; KETTING, D; BRUINVIS, L et al.Clinica chimica acta. 1987, Vol 165, Num 2-3, pp 197-204, issn 0009-8981Article

Sudden child death and healthy affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiencyDURAN, M; HOFKAMP, M; RHEAD, W. J et al.Pediatrics (Evanston). 1986, Vol 78, Num 6, pp 1052-1057, issn 0031-4005Article

Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndromeBOUGNERES, P. F; ROCCHICCIOLI, F; KØLVRAA, S et al.The Journal of pediatrics. 1985, Vol 106, Num 6, pp 918-921, issn 0022-3476Article