Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial

Background: Niemann-Pick disease type C (NPC) is a rare, fatal, pan-ethnic, autosomal recessive lysosomal storage disease characterized by progressive major organ failure and neurodegeneration. Preclinical studies confirmed a critical role of systemically administered hydroxypropyl-β-cyclodextrin (H...

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Xehetasun bibliografikoak

Egile Nagusiak:	Reena Sharma, Caroline Hastings, Orna Staretz-Chacham, Julian Raiman, Martin Paucar, Ronen Spiegel, Bryan Murray, Bryan Hurst, Benny Liu, Lise Kjems, Sharon Hrynkow
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Elsevier 2023-09-01
Saila:	Molecular Genetics and Metabolism Reports
Gaiak:	Cyclodextrin Cholesterol homeostasis Niemann-Pick disease type C Biomarker Disease stabilization NPC clinical severity scale
Sarrera elektronikoa:	http://www.sciencedirect.com/science/article/pii/S2214426923000344
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