Purpose: Niemann-Pick disease type C (NP-C) is an autosomal recessive lipid storage
disease manifested by an impairment in cellular cholesterol homeostasis. The clinical …

Intestinal Niemann-Pick C1 Like 1 (NPC1L1) protein plays a key role in cholesterol
absorption. A decrease in NPC1L1 expression has been implicated in lowering plasma …

Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage
disorder characterized with accumulation of cholesterol in endosomes and lysosomes. The …

The hepatic expression of Niemann‐Pick C1‐like 1 (NPC1L1), which is a key molecule in
intestinal cholesterol absorption, is high in humans. In addition to NPC1L1, Niemann‐Pick …

Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular
cholesterol transport out of the endolysosomal compartment. Marked heterogeneity has …

What is known and objective Niemann‐Pick C1‐Like 1 (NPC 1L1) plays a pivotal role in
intestinal cholesterol absorption. Ezetimibe is known as an inhibitor for NPC 1L1 and …

Niemann–Pick C, the autosomal recessive neuro-visceral disease resulting from a failure of
cholesterol trafficking within the endosomal–lysosomal pathway, is due to mutations in …

Niemann–Pick disease type C (NPC) is an inherited lipid storage disorder characterized by
a defect in intracellular trafficking of exogenous cholesterol and glycosphingolipids. A goal …

BACKGROUND AND AIMS: A substantial number of subjects with autosomal dominant
hypercholesterolemia (ADH) do not have LDL receptor (LDLR) or apolipoprotein B (APOB) …

Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal
recessive disorder, characterized by a multitude of neurovisceral clinical manifestations and …