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Literature

Here you will find publications on NP-C.

2012

Patterson MC, Hendriksz CJ, Walterfang M et al, for the NP-C Guidelines Working Group.
Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update.
Mol Genet Metab 2012; 106(3): 330-44

Wijburg FA, Sedel F, Pineda M, et al.
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C.
Neurology 2012; 78(20): 1560-67

Segal MM, Schiffmann R.
Editorial: Decision support for diagnosis. Co-evolution of tools and resources.
Neurology. 2012; 78(20): 1546-7

2010

Vanier M.
Niemann-Pick type C disease.
Orphanet J Rare Dis 2010: 5(16)

2009

Wraith JE, Baumgartner MR, Bembi B, et al, for the NP-C Guidelines Working Group.
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
Molecular Genetics Metabolism 2009; 98(1-2): 152-65