Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests

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.

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

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Niemann-Pick disease type C

Niemann Pick Disease Type C - Symptoms, Causes, Treatment

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Identification of Novel Biomarkers for Niemann–Pick Disease Using Gene Expression Analysis of Acid Sphingomyelinase Knockout Mice: Molecular Therapy

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

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Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA - ScienceDirect