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Diagnosis of Niemann-Pick C1 by Measurement of Bile Acid Biomarkers in Archived Newborn Dried Blood Spots
BACKGROUND: Niemann-Pick disease type C1 (NPC1) is a rare, neurodegenerative cholesterol storage disorder. Diagnostic delay of more than 5 years is common due to the rarity of the disease and non-specific early symptoms. To improve diagnosis and facilitate early intervention, we previously developed...
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| Veröffentlicht in: | Mol Genet Metab |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6365165/ https://ncbi.nlm.nih.gov/pubmed/30172462 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.08.007 |
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