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.

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

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

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

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

Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests