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, Frits A. Wijburg et al.|Journal of Inherited Metabolic Disease|2010Cited by 241
The natural history of classic galactosemia: lessons from the GalNet registryM. Estela Rubio‐Gozalbo, Gerard T. Berry, Minela Haskovic et al.|Orphanet Journal of Rare Diseases|2019Cited by 147
Identification of novel mutations in classical galactosemiaAnnet M. Bosch, Hans R. Waterham|Human Mutation|2005Cited by 37
Bone mineral density is within normal range in most adult phenylketonuria patientsCharlotte M. A. Lubout, Annet M. Bosch, Francisco Arrieta et al.|Journal of Inherited Metabolic Disease|2019Cited by 36