| Literature DB >> 1696122 |
A D Dick1, J Jagger, A C McCartney.
Abstract
Refsum's disease (phytanic acid storage disease) results in an accumulation of lipid as a result of an absence of mitochondrial hydroxylation of phytanic acid. We describe a previously unrecorded electron microscopic study of lipid deposition in the iris pigment epithelium of a patient with Refsum's disease, and lipid was present in other sites within the iris.Entities:
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Year: 1990 PMID： 1696122 PMCID： PMC1042131 DOI： 10.1136/bjo.74.6.370
Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638