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.
Experimental treatment for Niemann-Pick disease type C1 appears safe, effective
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1 - ScienceDirect
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study, Orphanet Journal of Rare Diseases
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Niemann–Pick disease, type C - Wikipedia
Complex lipid trafficking in Niemann‐Pick disease type C - Vanier - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study, Orphanet Journal of Rare Diseases
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study, Orphanet Journal of Rare Diseases
Genetic disorders of cellular trafficking: Trends in Genetics
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