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This retrospective study reviews the medical records of adult patients with inborn errors of metabolism in Switzerland. It included patients aged 16 and older who had transitioned from pediatric to adult metabolic care or were referred for suspected disease. This was a non-phase study and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * All IEM adult patients who were transitioned from the pediatric clinic to the adult metabolic clinic (the Centre for Molecular Disease in Lausanne and the Division of Endocrinology, Diabetology, Hypertension and Nutrition of the HUG) since its creation in 2013 and those who were referred to our clinic for suspicion of IEM and requiring further investigation. Exclusion Criteria: * Age \< 16 years . Any document attesting a refusal to participate will exclude the data entry of the concerned patient.