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

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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.
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study, Orphanet Journal of Rare Diseases
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
IJMS, Free Full-Text
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
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
Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
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
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
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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