European proposed guidelines, using the SIGN methodology, have been developed for OAD and UCD.
The E-IMD consortium divided into four groups for UCD, GA1, MMA/PA and IVA. The SIGN methodology was strictly adhered to and included the establishment of a group of experts (consortium members, external experts and patient representatives), identification of guideline topics (i.e. newborn screening, investigation, treatment, complications and so on), a systematic literature review of relevant publications, evaluation of published evidence, formal consensus finding, formulation of recommendations and specifying the strength of the recommendation, external review and publication.
At least three meetings per group were held during the course of the activity. Full versions of the guidelines are published or in the process of publication. Short versions are available to download from this website.