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 treatment
Annet M. Bosch(Emma Kinderziekenhuis), Hans R. Waterham(Amsterdam University Medical Centers), A. E. M. Stroomer(Amsterdam UMC Location University of Amsterdam), Ronald J. A. Wanders(Amsterdam University Medical Centers), Frits A. Wijburg(Emma Kinderziekenhuis), N. G. G. M. Abeling(Amsterdam UMC Location University of Amsterdam), Gepke Visser(Amsterdam UMC Location University of Amsterdam), Hennie Knoester(Amsterdam UMC Location University of Amsterdam), W. Ludo van der Pol(University Medical Center Utrecht), Lodewijk IJlst(Amsterdam UMC Location University of Amsterdam), Marinus Durán(Amsterdam UMC Location University of Amsterdam)
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