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Fast facts: long-chain fatty acid oxidation disorders : understand, identify and support
Barbara K. Burton, Anne Daly
- Publikováno
- Basel : S. Karger, 2021
- Stránkování
- 1 online resource (48 pages) : 9 figures, 9 in color, 6 tables
Jazyk angličtina Země Německo
Typ dokumentu příručky
Knihovny.cz ISBN
978-3-318-06831-3
978-3-318-06830-6
plný text - pouze pro uživatele NLK
Karger Fast Facts e-book
Knihovny.cz E-zdroje
- MeSH
- mastné kyseliny MeSH
- metabolismus MeSH
- Publikační typ
- příručky MeSH
- Konspekt
- Patologie. Klinická medicína
- NLK Obory
- vnitřní lékařství
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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