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

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

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

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

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

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

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Niemann-Pick Disease Type C

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

Comparative Hippocampal Proteome and Phosphoproteome in a Niemann–Pick, Type C1 Mouse Model Reveal Insights into Disease Mechanisms

Niemann Pick Disease - an overview

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

Complex lipid trafficking in Niemann‐Pick disease type C - Vanier - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library