Thiamine-responsive inborn errors of metabolismDURAN, M; WADMAN, S. K.Journal of inherited metabolic disease. 1985, Vol 8, pp 70-75, issn 0141-8955, suppl. 1Article

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

A retrospective study of a patient with homozygous form of acute intermittent porphyriaBEUKEVELD, G. J. J; WOLTHERS, B. G; NORDMANN, Y et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 5, pp 673-683, issn 0141-8955, 11 p.Article

Biochemical basis of prolidase deficiency: polypeptide and RNA phenotypes and the relation to clinical phenotypesENDO, F; TANOUE, A; KITANO, A et al.The Journal of clinical investigation. 1990, Vol 85, Num 1, pp 162-169, issn 0021-9738Article

Stable isotope dilution analysis of orotic acid and uracil in amniotic fluidJAKOBS, C; SWEETMAN, L; NYHAN, W. L et al.Clinica chimica acta. 1984, Vol 143, Num 2, pp 123-133, issn 0009-8981Article

Sulfite oxidase deficiency and the detection of urinary sulfiteWADMAN, S. K; CATS, B. P; DE BREE, P. K et al.European journal of pediatrics. 1983, Vol 141, Num 1, pp 62-63, issn 0340-6199Article

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

Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia : minor metabolic products of the citrate synthase aldol condensation reactionVAN ROOYEN, J. P. G; MIENIE, L. J; ERASMUS, E et al.Clinica chimica acta. 1994, Vol 230, Num 1, pp 91-99, issn 0009-8981Article

Gas chromatography method for the separation of amino acids enantiomers in plasma and urine. Application in a case of short bowel syndromeKETTING, D; WADMAN, S. K; SPAAPEN, L. J. M et al.Clinica chimica acta. 1991, Vol 204, Num 1-3, pp 79-86, issn 0009-8981Article

A new method for the determination of L-DOPA and 3-O-methyldopa in plasma and cerebrospinal fluid using gas chromatography and electron capture negative ion mass spectrometryDE JONG, A. P. J. M; KOK, R. M; CRAMERS, C. A et al.Clinica chimica acta. 1988, Vol 171, Num 1, pp 49-61, issn 0009-8981Article