| Description |
1 online resource : color illustrations. |
| Series |
Fast facts |
|
Fast facts.
|
| Bibliography |
Includes bibliographical references. |
| Contents |
Fatty acid metabolism -- Epidemiology and genetics -- Clinical presentation -- Diagnosis -- Genetic counseling, newborn screening and patient support. |
| Summary |
"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"--Publisher's description. |
| Note |
Description based on online resource; title from electronic title page (R2 Digital Library, viewed on June 29, 2021). |
| Subject |
Lipids -- Metabolism -- Disorders.
|
|
Fatty acids -- Metabolism.
|
|
Oxidation-Reduction.
|
|
Lipid Metabolism, Inborn Errors. (DNLM)D008052
|
|
Fatty Acids -- metabolism.
(DNLM)D005227Q000378
|
|
Oxidation-Reduction. (DNLM)D010084
|
|
Metabolism. (DNLM)D008660
|
|
Fatty Acids. (DNLM)D005227
|
|
Fatty acids -- Metabolism.
(OCoLC)fst00921964
|
|
Lipids -- Metabolism -- Disorders.
(OCoLC)fst00999375
|
| Added Author |
Daly, Anne, 1951- author.
|
| Cover Title |
Fast facts: long-chain fatty acid oxidation disorders : understand, identify and support |
| Other Form: |
Print version: 9783318068306 (OCoLC)1255367106 |
| ISBN |
9783318068306 (electronic book) |
|
3318068306 (electronic book) |
|
9783318068306 (paperback) |
|
3318068306 (paperback) |
| Standard No. |
10.1159/isbn.978-3-318-06831-3 doi |
|
