Improving the quality of diagnosis, information, research and treatment for individuals affected with an organic aciduria (OAD) or with a urea cycle defect (UCD).
- General introduction
- Laboratory services linked to partners
- Individual conditions
- European proposed guidelines using SIGN methodology
The manuscrit "Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders" has been accepted for publication in Journal of Inherited Metabolic Disease.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia, soon available online in the Orphanet Journal of Rare Diseases29/08/2014
These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness.
FINAL REPORT – Summary for publication dissemination
- New publication26/08/2015