Title : A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.

Pub. Date : 2021 Sep

PMID : 34113546






1 Functional Relationships(s)
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1 Introduction: Niemann-Pick C (NPC) is an autosomal recessive disease due to defective NPC1 or NPC2 proteins resulting in endo-lysosomal storage of unesterified cholesterol in the central nervous system and liver. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens