W. Oostheim

发表

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

R. Hennekam, H. Waterham, R. Wanders, 2001, Annals of human genetics.

Alkyl-Dihydroxyacetonephosphate Synthase

R. Wanders, L. Ijlst, H. van den Bosch, 1998, The Journal of Biological Chemistry.

Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome

R. Hennekam, H. Waterham, R. Wanders, 2001 .

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

R. Wanders, H. Mandel, L. Ijlst, 1998, The Journal of clinical investigation.

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 Low

R. Wanders, H. Heymans, L. Ijlst, 2000, Pediatric Research.

Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.

R. Wanders, J. Williams, V. Iacobazzi, 2001, Biochemical and biophysical research communications.

Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.

S. Ferdinandusse, S. Denis, L. Ijlst, 2002, American journal of human genetics.

Molecular cloning and expression of human L-pipecolate oxidase.

R. Wanders, L. Ijlst, W. Oostheim, 2000, Biochemical and biophysical research communications.

Identification of novel mutations in classical galactosemia

H. Waterham, L. Ijlst, R. Wanders, 2005, Human mutation.

Identification of Novel Mutations in Classical

H. Waterham, L. Ijlst, H. Bakker, 2005 .

Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.

H. Moser, R. Wanders, L. Ijlst, 1999, Journal of lipid research.

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations

R. Wanders, L. Ijlst, W. Oostheim, 1997, Journal of Inherited Metabolic Disease.

Identification of three patients with a very mild form of Smith‐Lemli‐Opitz syndrome

Ronald J A Wanders, Hans R Waterham, H. Waterham, 2003, American journal of medical genetics. Part A.

and molecular cytogenetic of a large de novo interstitial

R. Hennekam, H. Waterham, R. Wanders, 2022 .

UvA-DARE ( Digital Academic Repository ) Molecular basis of hepatic carnitine palmitoyltransferase

R. Wanders, H. Mandel, L. Ijlst, 1998 .

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

J. Hiltunen, S. Ferdinandusse, H. Waterham, 2006, American journal of human genetics.

Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency.

R. Wanders, L. Ijlst, F. Palmieri, 1999, Advances in experimental medicine and biology.

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

S. Ferdinandusse, H. Waterham, R. Wanders, 2019, Human mutation.

Molecular basis of Sjögren-Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patients

R. Wanders, L. Ijlst, M. Willemsen, 1999, Journal of Inherited Metabolic Disease.

S. Ferdinandusse, J. Haasjes, H. Lenthe, 2019 .