Lehmann, Vivian; Schene, Imre F; Ardisasmita, Arif I; Liv, Nalan; Veenendaal, Tineke; Klumperman, Judith; van der Doef, Hubert P J; Verkade, Henkjan J; Verstegen, Monique M A; van der Laan, Luc J W; Jans, Judith J M; Verhoeven-Duif, Nanda M; van Hasselt, Peter M; Nieuwenhuis, Edward E S; Spee, Bart; Fuchs, Sabine A
(Springer, 2022-03)
Inborn errors of metabolism (IEMs) comprise a diverse group of individually rare monogenic disorders that affect metabolic pathways. Mutations lead to enzymatic deficiency or dysfunction, which results in intermediate ...