Chargement en cours...
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...
Enregistré dans:
| Auteurs principaux: | , , , , |
|---|---|
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
1984
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1628542/ https://ncbi.nlm.nih.gov/pubmed/6201142 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|