Sudden child death and healthy affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency von DURAN, M, HOFKAMP, M, RHEAD, W. J, SAUDUBRAY, J.-M, WADMAN, S. K

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Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis von JAEKEN, J, WADMAN, S. K, VAN DEN BERGHE, G, DURAN, M, VAN SPRANG, F. J, BEEMER, F. A, HOLL, R. A, THEUNISSEN, P. M, DE COCK, P, VAN DEN BERGH, F, VINCENT, M. F

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Gas chromatography method for the separation of amino acids enantiomers in plasma and urine. Application in a case of short bowel syndrome von Ketting, D., Wadman, S.K., Spaapen, L.J.M., Van der Meer, S.B., Duran, M.

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A retrospective study of a patient with homozygous form of acute intermittent porphyria von Beukeveld, G. J. J., Wolthers, B. G., Nordmann, Y., Deybach, J. C., Grandchamp, B., Wadman, S. K.

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Identification of the stereoisomeric configurations of methylcitric acid produced by si-citrate synthase and methylcitrate synthase using capillary gas chromatography-mass spectrom... von VAN ROOYEN, J. P. G, MIENIE, L. J, ERASMUS, E, DE WET, W. J, KETTING, D, DURAN, M, WADMAN, S. K

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Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: Minor metabolic products of the citrate synthase aldol condensation reaction von Van Rooyen, J.P.G., Mienie, L.J., Erasmus, E., De Wet, W.J., Duran, M., Wadman, S.K.

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Inborn Errors of Molybdenum Metabolism: Combined Deficiencies of Sulfite Oxidase and Xanthine Dehydrogenase in a Patient Lacking the Molybdenum Cofactor von Johnson, Jean L., Waud, William R., Rajagopalan, K. V., Duran, Marinus, Beemer, Frits A., Wadman, Sybe K.

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Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria von NARISAWA, K, GIBSON, K. M, SWEETMAN, L, NYHAN, W. L, DURAN, M, WADMAN, S. K

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Urinary D‐4‐hydroxyphenyllactate, D‐phenyllactate and D‐2‐hydroxyisocaproate, abnormalities of bacterial origin von Spaapen, L. J. M., Ketting, D., Wadman, S. K., Bruinvis, L., Duran, M.

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Group tests for selective screening of inborn errors of metabolism von Duran, M, Dorland, L, Wadman, S K, Berger, R

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Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism von Berger, R., Vries, S.A.Stoker-de, Wadman, S.K., Duran, M., Beemer, F.A., de Bree, P.K., Weits-Binnerts, J.J., Penders, T.J., van der Woude, J.K.

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Thiamine‐responsive inborn errors of metabolism von Duran, M., Wadman, S. K.

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D-glyceric acidemia: an inborn error associated with fructose metabolism von DURAN, M, BEEMER, F. A, BRUINVIS, L, KETTING, D, WADMAN, S. K

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Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines von de Bree, P.K., Wadman, S.K., Duran, M., de Jonge, H.Fabery

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Biochemical basis of prolidase deficiency: polypeptide and RNA phenotypes and the relation to clinical phenotypes von ENDO, F, TANOUE, A, KITANO, A, ARATA, J, DANKS, D. M, LAPIERE, C, SEI, Y, WADMAN, S. K, MATSUDA, I

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Quantitative gas chromatographic determination of urinary hydantoin-5-propionic acid in patients with disorders and folate/vitamin B12 metabolism von DURAN, M, BRUINVIS, L, WADMAN, S. K

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Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria von Picat, C., Delfau, M. H., Rooij, F. W. M., Beukeveld, G. J. J., Wolthers, B. G., Wadman, S. K., Nordmann, Y., Grandchamp, B.

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O-Phosphohydroxylysinuria: a new inborn error of metabolism? von Dorland, L., Duran, M., De Bree, P.K., Smith, G.R., Horvath, A., Tibosch, A.S., Wadman, S.K.

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Urinary excretion of 2-methyl-2,3-butanediol and 2,3-pentanediol in patients with disorders of propionate and methylmalonate metabolism von Duran, M., Ketting, D., Bruinvis, L., Dorland, L., Wadman, S.K., Bakkeren, J.A.J.M.

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Rapid diagnosis of 3-hydroxy-3-methylglutaryl—coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method von Wanders, R.J.A., Zoeters, P.H.M., Schutgens, R.B.H., de Klerk, J.B.C., Duran, M., Wadman, S.K., van Sprang, F.J., Hemmes, A.M., Voorbrood, B.S.

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