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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Descrição
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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Niemann Pick Disease - an overview
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
Niemann-Pick Disease Type C
Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling - ScienceDirect
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators, Orphanet Journal of Rare Diseases
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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect
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