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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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Main Authors: Watkins, P A, Chen, W W, Harris, C J, Hoefler, G, Hoefler, S, Blake, D C, Balfe, A, Kelley, R I, Moser, A B, Beard, M E
格式: Artigo
語言:Inglês
出版: 1989
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC303746/
https://ncbi.nlm.nih.gov/pubmed/2921319
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