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Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C |
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| Authors: | Xiong Hui Higaki Katsumi Wei Cui-Jie Bao Xin-Hua Zhang Yue-Hua Fu Na Qin Jiong Adachi Kaori Kumura Yumiko Ninomiya Haruaki Nanba Eiji Wu Xi-Ru |
| Institution: | Department of Pediatric, Peking University First Hospital, Beijing 100034, China. |
| Abstract: | Niemann–Pick disease type C (NP-C), caused by mutations of either NPC1 or NPC2 gene, is an inherited lysosomal lipid storage disorder that is difficult to be diagnosed and treated. NP-C is rarely reported in China and so far very few literatures are available for Chinese clinical workers. To better characterize this disease in China and improve genetic counseling, mutational analyses of NPC1 gene were carried out in 6 unrelated Chinese patients. |
| Keywords: | NP-C Niemann–Pick disease type C NPC1 Niemann–Pick disease type C1 NPC2 Niemann–Pick disease type C2 PCR polymerase chain reaction C-WISC Wechsler Intelligence Scale for Children MRI magnetic resonance imaging EEG electroencephalogram LDL low-density lipoprotein HDL high-density lipoprotein |
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