Fast Facts: Long-Chain Fatty Acid Oxidation Disorders [Japanese]
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,...
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| Formato: | Libro |
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S. Karger
2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=nlebk&AN=4355897&site=ehost-live header: @attributes: shortDbName: nlebk uiTerm: 4355897 longDbName: eBook Collection (EBSCOhost) uiTag: AN controlInfo: bkinfo: btl: Fast Facts: Long-Chain Fatty Acid Oxidation Disorders [Japanese] aug: au: Barbara K., Burton Anne, Daly isbn: 9783318073768 9783318074987 9783318074994 imageinfo: pubinfo: dt: @attributes: year: 2025 month: 01 day: 01 dtAvail: @attributes: year: 2026 month: 02 day: 11 ed: 1st pub: S. Karger pubContract: Karger AG (Open Access) place: Basel price: 0.01 limitsGroup: maxCheckoutDays: 1500 pda: N printPagesOffline: 100 printPagesOnline: 100 previewPages: 10000 prePubGroup: dewey: @attributes: class: 618.9239 item: 618 .9239 lc: @attributes: class: RJ390 item: RJ 390 artinfo: ui: 4355897 1550575974 formats: fmt: – @attributes: type: EB doid: NL$4355897$PDF caption: PDF download: Y – @attributes: type: EK doid: NL$4355897$EPUB caption: EPUB download: Y tig: atl: Fast Facts: Long-Chain Fatty Acid Oxidation Disorders [Japanese] ptl: Fast Facts aug: au: Barbara K., Burton Anne, Daly su: Fatty acids Metabolic disorders in children sug: subj: MEDICAL / Endocrinology & Metabolism Fatty acids Metabolic disorders in children ab: 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. pubtype: eBook doctype: Book ougenre: Book language: Japanese copyright: @attributes: flag: N copyrightText: holdings: @attributes: islocal: N |
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