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...

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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:
Research
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

Internet

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

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