Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase GeneHans R. Waterham, Ronald J. A. Wanders, L. Dorland et al.|The American Journal of Human Genetics|1998Cited by 297
Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatmentAnnet M. Bosch, Hans R. Waterham, Lodewijk IJlst et al.|Journal of Inherited Metabolic Disease|2010Cited by 241
Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB GeneAnibh M. Das, Ronald J. A. Wanders, Sabine Illsinger et al.|Clinical Chemistry|2006Cited by 73
Identification of novel mutations in classical galactosemiaAnnet M. Bosch, Hans R. Waterham|Human Mutation|2005Cited by 37
Primary hyperoxaluria type 1 with a novel mutationSidharth Kumar Sethi, Arvind Bagga, Hans R. Waterham et al.|The Indian Journal of Pediatrics|2008Cited by 6