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Towards a New Diagnostic Standard for Niemann-Pick C Disease

Overview
Journal EBioMedicine
Specialty Biomedical Engineering
Date 2016 Mar 17
PMID 26981565
Citations 5
Authors
Xuntian Jiang
Daniel S Ory
Affiliations
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Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.

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Niemann-Pick disease type C in the newborn period: a single-center experience.

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Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

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References
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