Associated Papers
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Hildreth A et al.
Cold Spring Harbor Molecular Case Studies, 2017
[Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation].
Yang R et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Early miglustat therapy in infantile Niemann-Pick disease type C.
Di Rocco M et al.
Pediatric Neurology, 2012
Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 0
36264126 (PubMed )
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