Clouds over IEMs? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

Abstract excerpt

<title>Abstract</title> <p>Background: Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood. Thus, clinical care of adults with IMD has emerged as a new and challenging reality. This purpose of this study of adults with IMD in an adult metabolic clinic at two academic hospitals (Lausanne and...

Topics

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• Gene Expression
• Genetic Carrier Screening
• Infant, Newborn
• Metabolism, Inborn Errors
• Mutation
• Neonatal Screening
• Prognosis
• Rare Diseases

Identifiers and source

Literature Corpus work

8ba15a09-a5ef-5bb9-87a4-7b3c6623ac95

DOI

10.21203/rs.3.rs-24030/v2