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Fast Facts: Long-Chain Fatty Acid Oxidation Disorders : Understand, Identify and Support / Barbara K. Burton, Anne Daly [electronic resource]

By: Contributor(s): Basel : S. Karger, 2021Description: 1 online resource (48 pages) : 9 figures, 9 in color, 6 tablesISBN:
  • 9783318068313
Subject(s): Additional physical formats: Print version:: Fast Facts: Long-Chain Fatty Acid Oxidation DisordersOnline resources: 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.
Holdings
Item type Home library Class number URL Status Date due Barcode
E-book Alder Hey Children's Hospital Library Link to resource Not for loan
E-book Bolton NHS Library Link to resource Not for loan
E-book Bridgewater Community NHS Library Link to resource Not for loan
E-book Countess of Chester NHS Library Link to resource Not for loan
E-book East Cheshire NHS Library Link to resource Not for loan
E-book East Lancashire Hospitals - Burnley Hospital NHS Library Link to resource Not for loan
E-book East Lancashire Hospitals - Royal Blackburn Hospital NHS Library Link to resource Not for loan
E-book Greater Manchester Mental Health NHS Library Link to resource Not for loan
E-book Lancashire and South Cumbria NHS Library Link to resource Not for loan
E-book Lancashire Teaching Hospitals NHS Foundation Trust - Chorley Library Link to resource Not for loan
E-book Lancashire Teaching Hospitals NHS Foundation Trust - Preston Library Link to resource Not for loan
E-book Liverpool Heart and Chest NHS Library Link to resource Not for loan
E-book Liverpool University Hospitals NHS Foundation Trust - Aintree Library Link to resource Not for loan
E-book Liverpool University Hospitals NHS Library - Royal Liverpool Link to resource Not for loan
E-book Liverpool Women’s NHS Library Link to resource Not for loan
E-book LKS for NHS Ambulance Services in England (LKS ASE) Link to resource Not for loan
E-book Mersey and West Lancashire NHS Library - Southport and Ormskirk Link to resource Not for loan
E-book Mersey and West Lancashire NHS Library - St Helens and Knowsley Link to resource Not for loan
E-book Mid Cheshire NHS Library Link to resource Not for loan
E-book Pennine Care NHS Knowledge Service Link to resource Not for loan
E-book Stockport NHS Library Link to resource Not for loan
E-book Tameside and Glossop NHS Library Link to resource Not for loan
E-book University Hospitals of Morecambe Bay - Furness NHS Library Link to resource Not for loan
E-book University Hospitals of Morecambe Bay - Lancaster NHS Library Link to resource Not for loan
E-book Wirral NHS Library Link to resource Not for loan
E-book Wrightington, Wigan & Leigh - Wigan NHS Library Link to resource Not for loan
E-book Wrightington, Wigan & Leigh - Wrightington NHS Library Link to resource Not for loan

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.

Print version record