Niemann-Pick disease type C: analysis of 7 patients |
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| Authors: | Hui Xiong Xin-Hua Bao Yue-Hua Zhang You-Ning Xu Jiong Qin Hui-Ping Shi Xi-Ru Wu |
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| Affiliation: | 1.Department of Pediatrics,Peking University First Hospital,Beijing,China;2.Department of Pediatrics,Beijing Changping District Hospital,Beijing,China;3.Department of Genetics, Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China |
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| Abstract: | 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. |
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