21 September 2021

Hereditary metabolic disorders form a large group of more than 1,400 rare disorders in which an error in the DNA causes abnormalities in the process in which proteins, fats and carbohydrates are converted into smaller building materials and energy. Affected individuals have lifelong physical and cognitive impairments, often the conditions are progressive. Scientific research is essential to increase our understanding of the disease mechanisms of these disorders. Knowledge about the disease mechanisms can potentially be used to develop therapies that allow patients to be treated better in the future, and ultimately make these disorders eligible for inclusion in the heel prick screening. This scientific study uses the patient's blood, urine and, if possible, cerebrospinal fluid and fibroblasts.

  • Want to know more about these subjects? Click on the buttons below for more news.

    Radboud biobank

Related news items


New template available for participant information and informed consent

21 October 2025

The new Radboud Biobank template Participant Information Form (PIF) and Informed Consent (IC) for biobank collections is based on the standard developed within the NFU Mutual Recognition project. 

go to page

Radboudumc Researchers Highlight Critical Gaps in Reporting Pre-Analytical Processes in Biobanked Biomaterials

21 October 2025

Radboudumc Researchers have identified significant shortcomings in pre-analytical sample processing reporting in clinical biomarker research, a factor crucial for study reliability and replicability.

go to page

The National Biobanks & Collections Day

21 October 2025

On Thursday, March 19, 2026, the third edition of the National Biobanks & Collections Day will be organized in Utrecht at the Princess Máxima Center for Pediatric Oncology.

go to page

First implications of the Radboud Biobank new business model

15 July 2025

It was communicated in an earlier news item that the Radboudumc Board of Directors decided to change the Radboud Biobank business model.

go to page

Relocation of Radboud Biobank samples to Central Freezing Facility

15 July 2025

The Radboud Biobank has now transferred almost all stored samples to the central freezing facility.

go to page

Standardized Radboud Biobank procedures for sample handling in Elabgids

15 July 2025

The Radboud Biobank is currently preparing to include all standardized Radboud Biobank procedures for sample handling in the eLabgids.

go to page