Molecular basis of Sjögren-Larsson syndrome : Frequency of the 1297-1298 del GA and 943C → T mutation in 29 patientsIJLST, L; OOSTHEIM, W; VAN WERKHOVEN, M et al.Journal of inherited metabolic disease. 1999, Vol 22, Num 3, pp 319-321, issn 0141-8955Article

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndromeJIRA, P. E; WANDERS, R. J. A; SMEITINK, J. A. M et al.Annals of human genetics. 2001, Vol 65, pp 229-236, issn 0003-4800, 3Article

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 lowDEN BOER, M. E. J; IJLST, L; WIJBURG, F. A et al.Pediatric research. 2000, Vol 48, Num 2, pp 151-154, issn 0031-3998Article

Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: Identification of the true defect at the level of D-bifunctional proteinFERDINANDUSSE, S; VAN GRUNSVEN, E. G; OOSTHEIM, W et al.American journal of human genetics. 2002, Vol 70, Num 6, pp 1589-1593, issn 0002-9297Article

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