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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Dicarboxylic aciduria in an infant with spinal muscular atrophy.

A 1-year-old infant with classic Werdnig-Hoffmann disease was found to excrete abnormally large amounts of dicarboxylic acids in both fed and fasting states, with especially notable increases in the longer-chain ( C10 and C12) 3-hydroxydicarboxylic acids. Dicarboxylic aciduria has not previously been associated with Werdnig-Hoffmann disease and suggests a primary or secondary defect of fatty acid metabolism in the disorder.[1]


  1. Dicarboxylic aciduria in an infant with spinal muscular atrophy. Kelley, R.I., Sladky, J.T. Ann. Neurol. (1986) [Pubmed]
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