Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase GeneHans R. Waterham, Ronald J. A. Wanders, Frits A. Wijburg et al.|The American Journal of Human Genetics|1998Cited by 297
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesisMichèl A.A.P. Willemsen, Ron A. Wevers, Marcel M. Verbeek et al.|Brain|2010Cited by 233
Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlationsM. J. Valstar, Frits A. Wijburg, Sanne Neijs et al.|Annals of Neurology|2010Cited by 192
Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic FindingsFrederik Barkhof, Jaap Valk, Aad Verrips et al.|Radiology|2000Cited by 184
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement DisorderSaskia B. Wortmann, Ron A. Wevers, M. Estela Rubio‐Gozalbo et al.|The American Journal of Human Genetics|2015Cited by 135