Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency. - Klouwer, Femke C.C.; Roosendaal, Stefan D.; Hollak, Carla E. M.; Langeveld, Mirjam; Poll-The, Bwee Tien; Sorge, Arlette J. van; Wolf, Nicole I.; Knaap, Marjo S. van der; Engelen, Marc (Orphanet Journal of Rare Diseases, 2024)