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- W2020582550 abstract "A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen." @default.
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- W2020582550 title "Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria" @default.
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