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Pathomechanisms Underlying X‐Adrenoleukodystrophy: A Three‐Hit Hypothesis
X‐adrenoleukodystrophy (X‐ALD) is a complex disease where inactivation of ABCD1 gene results in clinically diverse phenotypes, the fatal disorder of cerebral ALD (cALD) or a milder disorder of adrenomyeloneuropathy (AMN). Loss of ABCD1 function results in defective beta oxidation of very long chain...
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Blackwell Publishing Ltd
2010
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3021280/ https://ncbi.nlm.nih.gov/pubmed/20626745 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2010.00392.x |
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