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- W1976189162 abstract "Inborn errors of fatty acid transport and mitochondrial oxidation (FATMO) represent a group of metabolic disorders that has brought forward many interesting developments in recent years, particularly the discovery of several new defects and the recognition of an ever-increasing spectrum of clinical phenotypes. The impact of newborn and postmortem screening in preventing morbidity and mortality is now recognized beyond specialized academic centers and has emerged as a staple of general pediatric practice. This review focuses on the biochemical basis and clinical manifestations of these disorders, particularly maternal complications of pregnancy, the increasingly complex process of laboratory evaluation, and a synopsis of two recently discovered defects: long-chain fatty acid transport/binding defect and medium- and short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. Although our understanding of these new disorders is still incomplete, they nevertheless appear to have a more than casual relationship with acute liver failure in pediatric patients." @default.
- W1976189162 created "2016-06-24" @default.
- W1976189162 creator A5079441088 @default.
- W1976189162 date "2001-01-01" @default.
- W1976189162 modified "2023-09-25" @default.
- W1976189162 title "Fatty Acid Transport and Mitochondrial Oxidation Disorders" @default.
- W1976189162 doi "https://doi.org/10.1055/s-2001-19037" @default.
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