載入...

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...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Poulos, A, Pollard, A C, Mitchell, J D, Wise, G, Mortimer, G
格式: Artigo
語言:Inglês
出版: 1984
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1628542/
https://ncbi.nlm.nih.gov/pubmed/6201142
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!