Newborn presentation of Niemann–Pick disease type C – Difficulties and limitations of diagnostic methods
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference7 articles.
1. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update;Patterson;Mol Genet Metab,2012
2. Niemann-Pick disease type C;Vanier;Orphanet J Rare Dis,2010
3. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C;Ries;J Inherit Metab Dis,2006
4. Diagnostic tests for Niemann-Pick disease type C (NP-C): a critical review;Vanier;Mol Genet Metab,2016
5. Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test;Vanier;Methods Cell Biol,2015
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