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Peroxisomal bifunctional enzyme deficiency.
Peroxisomal function was evaluated in a male infant with clinical features of neonatal adrenoleukodystrophy. Very long chain fatty acid levels were elevated in both plasma and fibroblasts, and beta-oxidation of very long chain fatty acids in cultured fibroblasts was significantly impaired. Although...
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| Główni autorzy: | , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
1989
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC303746/ https://ncbi.nlm.nih.gov/pubmed/2921319 |
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