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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: | , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1984
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1628542/ https://ncbi.nlm.nih.gov/pubmed/6201142 |
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