| 000 | 01933nam a22002895u 4500 | ||
|---|---|---|---|
| 001 | 280585 | ||
| 003 | SZ-BaSKA | ||
| 005 | 20241122201343.0 | ||
| 006 | m o d | ||
| 007 | cr unu | ||
| 008 | 230821s2021 sz a o 001 0 eng d | ||
| 020 | _a9783318068313 | ||
| 035 | _a(OCoLC)1252206340 | ||
| 040 |
_aUKSKG _beng _cUKSKG |
||
| 100 | 1 | _aBurton, Barbara K. | |
| 245 | 1 | 0 |
_aFast Facts: Long-Chain Fatty Acid Oxidation Disorders : _bUnderstand, Identify and Support / _c Barbara K. Burton, Anne Daly _h[electronic resource] |
| 264 |
_aBasel : _bS. Karger, _c2021 |
||
| 300 |
_a1 online resource (48 pages) : _b 9 figures, 9 in color, 6 tables |
||
| 520 | _aDisorders 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. | ||
| 588 | 0 | _aPrint version record | |
| 650 | 1 | 4 |
_aMetabolism _94143 |
| 700 | 1 | _aDaly, Anne | |
| 776 | 0 | 8 |
_iPrint version: _tFast Facts: Long-Chain Fatty Acid Oxidation Disorders _z9783318068306 |
| 856 |
_u#gotoholding _yAccess with NHS OpenAthens |
||
| 942 | _cEBOOK | ||
| 997 | _aHEEOUPNHS | ||
| 999 |
_c87236 _d87236 |
||