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.

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study – topic of research paper in Clinical medicine. Download

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

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

IJMS, Free Full-Text

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

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

Niemann Pick Disease - an overview

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

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases

IJMS, Free Full-Text

PDF) Identification of Niemann–Pick C1 (NPC1) disease biomarkers through sphingolipid profiling

Niemann-Pick Disease Type C

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

Frontiers Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

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