van-Rijt, Willemijn-J; Jager, Emmalie-A; Allersma, Derk-P; Zeybek, A-Cigdem-Aktuglu; Bhattacharya, Kaustuv; Debray, Francois-Guillaume; Ellaway, Carolyn-J; Gautschi, Matthias; Geraghty, Michael-T; Gil-Ortega, David; Larson, Austin-A; Moore, Francesca; Morava, Eva; Morris, Andrew-A; Oishi, Kimihiko; Schiff, Manuel; Scholl-Buergi, Sabine; Tchan, Michel-C; Vockley, Jerry; Witters, Peter; Wortmann, Saskia-B; van-Spronsen, Francjan; Van-Hove, Johan-L-K; Derks, Terry-G-J
(ELSEVIER SCIENCE INC, 2020-05)
PURPOSE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of metabolism. Case reports described successful D,L-3-hydroxybutyrate (D,L-3-HB) treatment in severely affected MADD ...