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 clinical database: cognitive and coordination deficits are early disease indicators, Orphanet Journal of Rare Diseases

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet

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

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

Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library

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

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

Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery

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

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

Niemann-Pick disease type C