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
Proposed diagnostic algorithm for patients with suspected Niemann-Pick
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Niemann-Pick Disease, Type a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Niemann–Pick disease, type C - Wikipedia
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Niemann-Pick disease type C
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Niemann-Pick disease type C, 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
Complex lipid trafficking in Niemann‐Pick disease type C - Vanier - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Frontiers GM1 Gangliosidosis—A Mini-Review
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1, Biomarker Research
Science Update: Biomarker for Niemann-Pick type C may be useful for  diagnosing other class of rare disorders, NIH study suggests
Niemann-Pick disease type C, 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
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
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases
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