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SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects
BACKGROUND: The detoxification of very long-chain and branched-chain fatty acids and the metabolism of cholesterol to form bile acids occur largely through a process called peroxisomal β-oxidation. Mutations in several peroxisomal proteins involved in β-oxidation have been reported, resulting in dis...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9396802/ https://www.ncbi.nlm.nih.gov/pubmed/35996156 http://dx.doi.org/10.1186/s40246-022-00408-w |