Cargando…

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis

BACKGROUND: Niemann-Pick Disease Type C (NPC) is an inherited, often fatal neurovisceral lysosomal storage disease characterized by cholesterol accumulation in every cell with few known treatments. Defects in cholesterol transport cause sequestration of unesterified cholesterol within the endolysoso...

Descripción completa

Detalles Bibliográficos
Autores principales: Hastings, Caroline, Vieira, Camilo, Liu, Benny, Bascon, Cyrus, Gao, Claire, Wang, Raymond Y., Casey, Alicia, Hrynkow, Sharon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805667/
https://www.ncbi.nlm.nih.gov/pubmed/31639011
http://dx.doi.org/10.1186/s13023-019-1207-1