Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

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) and sister (Case 2) in their mid-20s with gait disturbance and psychosis. For the Case 1, neuro...

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Detalhes bibliográficos
Publicado no:J Korean Med Sci
Main Authors: Lee, Su-Yun, Lee, Hyung Jin, Kim, Seong Hwan, Jeong, Young Jin, Jin, Hee Kyung, Bae, Jae-sung, Cheon, Sang-Myung, Kim, Jae Woo
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4901013/
https://ncbi.nlm.nih.gov/pubmed/27366019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2016.31.7.1168
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