Irish Child Health Database - Peer Reviewed Papers
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Hepatomegaly/etiology
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1. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
This case report discusses a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy
J Inherit Metab Dis, Vol: 27 Page: 105-8 2004
M. A. Kurian; S. Ryan; G. T. Besley; R. J. Wanders; M. D. King



