Fast Facts: Long-Chain Fatty Acid Oxidation Disorders : Understand, identify and support
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,...
Uloženo v:
| Hlavní autoři: | , |
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| Médium: | Livre numérique |
| Jazyk: | Anglais |
| Vydáno: |
Basel :
S. Karger
2021.
Basel : |
| On-line přístup: | https://www.karger.com/Book/Home/280585 Accès Université d'Orléans et IFPM |
| Poznámka: |
Karger Fast Facts |
| Autres localisations: | Voir dans le Sudoc |
| Edition sous un autre format: | • Fast Facts: Long-Chain Fatty Acid Oxidation Disorders, 9783318068306 |
| Shrnutí: | 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. |
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| Popis jednotky: | Karger Fast Facts |
| ISBN: | 9783318068313 |
| Přístup: | Accès libre pour tout établissement ou utilisateur ayant un compte sur la plateforme de l'éditeur |