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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Bibliografiska uppgifter
I publikationen:Mol Genet Metab
Huvudupphovsmän: Jiang, Xuntian, Sidhu, Rohini, Orsini, Joseph J., Farhat, Nicole Y., Porter, Forbes D., Berry-Kravis, Elizabeth, Schaffer, Jean E., Ory, Daniel S.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2018
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Article
Länkar: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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