Related Experiment Video
Updated: Sep 26, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies
1Department of Pediatrics, Adolescent Medicine and Neonatology, University Children's Hospital and Faculty of Medicine, Albert Ludwigs University, Freiburg, Germany.
Abstract:
The first international guideline on treatment and management of long-chain fatty acid oxidation disorders has been published and demonstrates little scientific evidence for many of the treatment decisions. However, it is a substantial achievement to harmonize treatment and to define the remaining challenges. We here deliver some thoughts on this guideline and highlight the tremendous effort to reach this international consensus.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Combination Therapies and Personalized Medicine
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
Combination Therapies and Personalized Medicine
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
Cystic Fibrosis: Management
Sinus disease and chronic sinusitis...
Overview of Fatty Acid Metabolism
Fatty acids are catabolized in a process called beta-oxidation, which takes place in the matrix of the mitochondria and converts their fatty acid chains into two-carbon units of acetyl groups. The acetyl...
Atherosclerosis III: Management