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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
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
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
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
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
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, 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
PDF) Identification of Niemann–Pick C1 (NPC1) disease biomarkers through sphingolipid profiling
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
Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry - ScienceDirect
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry - ScienceDirect
Science Update: Biomarker for Niemann-Pick type C may be useful for diagnosing other class of rare disorders, NIH study suggests
Experimental treatment for Niemann-Pick disease type C1 appears safe, effective
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
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
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
Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry - ScienceDirect
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