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Article

Niemann-Pick disease type C: analysis of 7 patients.

World journal of pediatrics : WJP - 1 Feb 2012

Xiong Hui, Bao Xin-Hua, Zhang Yue-Hua, Xu You-Ning, Qin Jiong, Shi Hui-Ping, Wu Xi-Ru

Abstract excerpt

BACKGROUND: Niemann-Pick disease type C (NP-C), derived from mutation of the NPC1 or NPC2 gene, is one of the recessive lysosomal lipid storage disorders that are difficult to diagnose and treat. Since NP-C has been rarely reported in China, we reviewed 7 patients with NP-C. METHODS: The 7 patients had been diagnosed with NP-C from 2007 to 2010 at our department and their laboratory and clinical data were...

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Source

Identifiers

PMID: 21633862
DOI: 10.1007/s12519-011-0284-6

Genes

NPC1
NPC2

Provenance

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