Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

Four children each exhibiting a profound deficiency of phytanic acid oxidase activity in cultured skin fibroblasts but with very different phenotypes, are described. A consistently raised plasma phytanic acid value, generally considered to be pathognomonic for Refsum's disease (phytanic acid ox...

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Main Authors: Poulos, A, Pollard, A C, Mitchell, J D, Wise, G, Mortimer, G
Format: Artigo
Jezik:Inglês
Izdano: 1984
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1628542/
https://ncbi.nlm.nih.gov/pubmed/6201142
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