Annual Meeting of the Society for the Study in Inborn Errors of MetabolismJournal of inherited metabolic disease. 1997, Vol 20, Num 3, issn 0141-8955, 135 p.Conference Proceedings

A case of benign pyruvate carboxylase deficiency with normal developmentHAMILTON, J; RAE, M. D; LOGAN, R. W et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 401-403, issn 0141-8955Conference Paper

Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiencyCARPENTER, K. H; POTTER, M; HAMMOND, J. W et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 354-358, issn 0141-8955Conference Paper

Identification of novel point mutations in the dihydropyrimidine dehydrogenase geneVREKEN, P; VAN KUILENBURG, A. B. P; MEINSMA, R et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 335-338, issn 0141-8955Conference Paper

D-(+)-Glyceric aciduria in an Afghan houndSEWELL, A. C; MORITZ, A; DURAN, M et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 395-396, issn 0141-8955Conference Paper

Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patientsSEBESTA, I; KRIJT, J; KMOCH, S et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 343-344, issn 0141-8955Conference Paper

Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuriaVAN GENNIP, A. H; DE ABREU, R. A; VAN LENTHE, H et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 339-342, issn 0141-8955Conference Paper

Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage diseaseMIZE, C. E; WABER, L. J; ANDERSON, T et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 407-410, issn 0141-8955Conference Paper

Muscle biochemistry in thiamin-responsive anaemiaBARRETT, T. G; POULTON, K; BAINES, M et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 404-406, issn 0141-8955Conference Paper

Familial renal disease or familial juvenile hyperuricaemic nephropathy?MCBRIDE, M. B; SIMMONDS, H. A; MORO, F et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 351-353, issn 0141-8955Conference Paper

Hyperhomocysteinemia : A risk factor for abruptio placentaeOWEN, E. P; HUMAN, L; CAROLISSEN, A. A et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 359-362, issn 0141-8955Conference Paper

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduriaGIBSON, K. M; HOFFMANN, G. F; SWEETMAN, L et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 391-394, issn 0141-8955Conference Paper

The activity of dihydropyrimidine dehydrogenase in human blood cellsVAN KUILENBURG, A. B. P; BLOM, M. J; VAN LENTHE, H et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 331-334, issn 0141-8955Conference Paper

Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitroSILVA, M. F. B; RUITER, J. P. N; IJLST, L et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 397-400, issn 0141-8955Conference Paper

GC-MS determination of guanidinoacetate in urine and plasmaHUNNEMAN, D. H; HANEFELD, F.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 450-452, issn 0141-8955Conference Paper

Molecular analysis in 23 Hunter disease familiesLISSENS, W; SENECA, S; LIEBAERS, I et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 453-456, issn 0141-8955Conference Paper

Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuriaWALTER, J. H; WHITE, F; WRAITH, J. E et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 367-369, issn 0141-8955Conference Paper

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutationsIJLST, L; OOSTHEIM, W; RUITER, J. P. N et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 420-422, issn 0141-8955Conference Paper

¹H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolismWEVERS, R. A; ENGELKE, U; ROTTEVEEL, J. J et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 345-350, issn 0141-8955Conference Paper

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctataJANSEN, G. A; MIHALIK, S. J; WATKINS, P. A et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 444-446, issn 0141-8955Conference Paper

Inhibition of β-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemiaVAN GENNIP, A. H; VAN LENTHE, H; ABELING, N. G. G. M et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 379-382, issn 0141-8955Conference Paper

Reversible dysregulation of the mitochondrial ATP synthase in skin fibroblasts from children with vitamin B₁₂-dependent methylmalonic acidaemiaDAS, A. M.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 375-378, issn 0141-8955Conference Paper

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometryVIANEY-SABAN, C; GUFFON, N; DELOLNE, F et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 411-414, issn 0141-8955Conference Paper

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New CaledoniaGIBSON, K. M; DOSKEY, A. E; RABIER, D et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 370-374, issn 0141-8955Conference Paper

Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liverVERHOEVEN, N. M; SCHOR, D. S. M; JANSEN, G. A et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 441-443, issn 0141-8955Conference Paper