Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
Descrição
A biomarker used to detect a rare neurodegenerative disorder of cholesterol metabolism, Niemann-Pick disease type C1 (NPC1), may also be useful for diagnosing another class of rare diseases known as congenital disorders of glycosylation (CDG), suggests a study by researchers at the National Institutes of Health.
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-018-0913-4/MediaObjects/13023_2018_913_Fig6_HTML.png)
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://www.mdpi.com/ijms/ijms-21-08080/article_deploy/html/images/ijms-21-08080-g001-550.jpg)
IJMS, Free Full-Text
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators, Orphanet Journal of Rare Diseases
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://pubs.acs.org/cms/10.1021/acsptsci.1c00033/asset/images/large/pt1c00033_0009.jpeg)
Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41598-022-06112-y/MediaObjects/41598_2022_6112_Fig1_HTML.png)
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1750-1172-5-16/MediaObjects/13023_2009_Article_179_Fig3_HTML.jpg)
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://media.springernature.com/lw685/springer-static/image/chp%3A10.1007%2F978-3-319-76148-0_6/MediaObjects/320413_1_En_6_Fig1_HTML.jpg)
Niemann-Pick Disease Type C
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1750-1172-5-16/MediaObjects/13023_2009_Article_179_Fig2_HTML.jpg)
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://onlinelibrary.wiley.com/cms/asset/f0d7c4e5-10f4-4b40-8aba-c6a145d586fc/jimd0187-fig-0002-m.jpg)
Complex lipid trafficking in Niemann‐Pick disease type C - Vanier - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library
![Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-020-01616-0/MediaObjects/13023_2020_1616_Fig2_HTML.png)
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study, Orphanet Journal of Rare Diseases
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