Work

Exploring the genetic contribution in metabolic disorders with varying environmental contributions

Year: 2024

Type: dissertation

Abstract: Distinguishing between genetic and environmental causes of rare diseases is challenging but crucial for accurate prognosis and treatment. Advances in molecular diagnostics over the past 15 years have made comprehensive genetic analyses accessible. This work integrates advanced genetic technologies into routine diagnostics for three metabolic disorders: familial hypercholesterolemia, paediatric acute liver failure, and mitochondrial disorders, demonstrating the feasibility and importance of comprehensive genetic testing in improving patient diagnostics.

Authors: Schlieben, Lea Dewi, Winkelmann, Juliane 1967-, Technische Universität München

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7056691920

Cites: 264

Cited by:

Related to: 10