Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

ABSTRACT:

Background

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.

Aim

To generate a translational knowledge agenda, which identifies and prioritizes research questions, directly relevant to patient care or for IMD patients and their families.

Methods and results

Following a process established by the Knowledge Institute of the Dutch Association of Medical Specialists, we generated a comprehensive translational knowledge agen

SUBMITTER: Hieltjes IJ 

PROVIDER: S-EPMC11667762 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature