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.

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling - ScienceDirect

Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts

Proposed diagnostic algorithm for patients with suspected Niemann-Pick

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment - Mengel - 2021 - Journal of Inherited

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

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1, Biomarker Research

PDF) Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect

Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry - ScienceDirect

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

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease