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A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed...
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| Publicado no: | J Lipid Res |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society for Biochemistry and Molecular Biology
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5408618/ https://ncbi.nlm.nih.gov/pubmed/28314860 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P075051 |
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