Development of the Dutch translational knowledge agenda for inherited metabolic diseases.
Hieltjes IJ, van der Lee JH, Groenendijk MC, van Haaften G, van Hasselt PM, Lunsing RJ, van Prooijen GJJ, de Ruiter EM, van Spronsen FJ, Verhoeven-Duif NM, de Vreugd A, Wagenmakers M, Zweers H, Dekker H, Waterham HR, van Karnebeek CD, Wanders RJA, Wevers RA
JIMD reports, 2025 Jan
Abstract
Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.