Description
Fast Facts: Long-Chain Fatty Acid Oxidation Disorders
Understand, identify and support
Authors: Burton Barbara K., Daly Anne
Language: EnglishSubject for Fast Facts: Long-Chain Fatty Acid Oxidation Disorders:
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Approximative price 23.27 €
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Add to cart the book of Burton Barbara K., Daly Anne
Publication date: 04-2021
48 p. · 14.8x21 cm · Paperback
48 p. · 14.8x21 cm · Paperback
Description
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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. Table of Contents: ? Fatty acid metabolism ? Epidemiology and genetics ? Clinical presentation ? Diagnosis ? Genetic counseling, newborn screening and patient support
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