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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Korean Med Sci
Autors principals: Lee, Su-Yun, Lee, Hyung Jin, Kim, Seong Hwan, Jeong, Young Jin, Jin, Hee Kyung, Bae, Jae-sung, Cheon, Sang-Myung, Kim, Jae Woo
Format: Artigo
Idioma:Inglês
Publicat: The Korean Academy of Medical Sciences 2016
Matèries:
Case Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars