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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901013/ https://www.ncbi.nlm.nih.gov/pubmed/27366019 http://dx.doi.org/10.3346/jkms.2016.31.7.1168 |