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.

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

NIH teams with industry to develop treatments for Niemann-Pick Type C disease.

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

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

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

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

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

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

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

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

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