Chargement en cours...
Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disorder with a heterogeneous phenotype including ataxia, cognitive impairment, impairment of vertical saccades, and psychiatric symptoms, among many others. Based on clinical, genetic, and biomarker findings, recent guidelines p...
Enregistré dans:
| Publié dans: | JIMD Rep |
|---|---|
| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Springer Berlin Heidelberg
2018
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323013/ https://ncbi.nlm.nih.gov/pubmed/30187371 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_133 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|