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Adrenoleukodystrophy as a Cause of Spastic Paraparesis and Hyperpigmentation
Background: X-linked Adrenoleukodystrophy (X-ALD) is caused by an abnormal gene mutation on the X chromosome which codes for an abnormal ABC transporter, preventing transport of very long chain fatty acids (VLCFAs) into peroxisomes for beta oxidation. These VLCFAs, unable to be broken down, thus acc...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089355/ http://dx.doi.org/10.1210/jendso/bvab048.227 |