Fast Facts: Long-Chain Fatty Acid Oxidation Disorders: Understand, Identify and Support - Couverture souple

Burton, Barbara K.; Daly, Anne

Couverture souple

ISBN 10 : 3318068306 ISBN 13 : 9783318068306

Editeur : S Karger AG, 2021

Synopsis

Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clinical and biochemical features. Newborn screening, which allows early intervention to prevent long-term morbidity, is not universally available. Even with screening, it is important that health professionals recognize the symptoms that may manifest at different stages of life. This concise guide to these rare conditions will be of value to all health professionals who may encounter or care for an individual with a long-chain fatty acid oxidation disorder. As well as explaining the underlying defects, inheritance and how the conditions manifest, the book describes the diagnosis and differential diagnosis of the disorders. The final chapter gives some guidance on genetic counseling and supporting patients.

Détails de l'édition

• Éditeur: S Karger AG
• Date d'édition: 2021
• Langue: anglais
• ISBN 10: 3318068306
• ISBN 13: 9783318068306
• Reliure: Broché
• Nombre de pages: 48
• Coordonnées du fabricant: non disponible
• Personne responsable: non disponible