Article
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.
Journal of inherited metabolic disease - 1 Jan 2005
Soorani-Lunsing R J, van Spronsen F J, Stolte-Dijkstra I, Wanders R J, Ferdinandusse S, Waterham H R, Poll-The B T, Rake J P
Abstract excerpt
We present a relatively mild case of peroxisomal D-bifunctional protein deficiency with inconsistent screening results in plasma for peroxisomal disorders.
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