Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030352 | PMC |
http://dx.doi.org/10.4103/2229-5178.131099 | DOI Listing |
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