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- W2033461021 abstract "Summary: Three decades after the first description of glutaryl-CoA dehydrogenase deficiency, major progress has been achieved in the prevention of acute striatal necrosis and neurological sequelae in affected children, if diagnosis is made early and treatment is started before manifestation of acute encephalopathic crises. However, all concepts for diagnostic work-up, monitoring, and treatment are solely experience-based, and 10–35% of early-diagnosed children do not or only incompletely benefit from the current management. They still develop neurological deterioriation and sequelae despite early implementation of dietary treatment, carnitine supplementation and emergency treatment during acute intercurrent illnesses. International efforts should be made to move management of affected children from experience-based to evidence-based medicine. Major tools for this optimization are the establishment of an international patients' database, the implementation of an international prospective clinical study, and the development of international guidelines for diagnostic work-up, monitoring and therapy." @default.
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- W2033461021 date "2004-11-01" @default.
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- W2033461021 title "Looking forward-An evidence-based approach to glutaryl-CoA dehydrogenase deficiency" @default.
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- W2033461021 doi "https://doi.org/10.1023/b:boli.0000045778.73581.7d" @default.
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