A carregar...
Niemann-Pick type C disease: The atypical sphingolipidosis
Niemann-Pick type C (NPC) disease is a lysosomal storage disorder resulting from mutations in either the NPC1 (95%) or NPC2 (5%) genes. NPC typically presents in childhood with visceral lipid accumulation and complex progressive neurodegeneration characterized by cerebellar ataxia, dysphagia, and de...
Na minha lista:
| Publicado no: | Adv Biol Regul |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6327306/ https://ncbi.nlm.nih.gov/pubmed/30205942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jbior.2018.08.001 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|