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- W2007989729 abstract "An infant with glycogen storage disease and prolonged malnourishment showed a urinary organic acid profile during an episode of fasting hypoglycaemia with inappropriate hypoketotic dicarboxylic aciduria that was indistinguishable from that reported in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. Although there was a striking elevation of urinary 3-hydroxydecanedioic acid, the ratios between hydroxydicarboxylic acids were consistent with values reported to be indicate of medium-chain acyl-CoA dehydrogenase deficiency. We suspect that the fasting 3-hydroxydicarboxylic aciduria was attributable to secondarily impaired enzyme activities, the consequence of malnutrition, early infancy, and/or glycogen storage disease. Caution is advised in the interpretation of urinary organic acid patterns that indicate a 3-hydroxydicarboxylic aciduria, as well as an inappropriate hypoketotic dicarboxylic aciduria, as they may represent non-specific findings." @default.
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- W2007989729 title "Marked elevation of urinary 3‐hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long‐chain <scp>l</scp> ‐3‐hydroxyacyl‐CoA dehydrogenase deficiency" @default.
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- W2007989729 doi "https://doi.org/10.1007/bf00714277" @default.
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