- Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
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Lee SY, Lee HJ, Kim SH, Jeong YJ, Jin HK, Bae JS, Cheon SM, Kim JW
- KMID: 2373740
- J Korean Med Sci.
- 2016 Jul;31(7):1168-1172.
- doi: 10.3346/jkms.2016.31.7.1168
Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1)... -
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