Niemann–Pick type C disease (NPCD) was first described in 1914 and affects approximately
1 in 150 000 live births. It is characterized clinically by diverse symptoms affecting liver …

Niemann–Pick type C disease (NPC) is a sphingolipid-storage disorder that results from
inherited deficiencies of intracellular lipid-trafficking proteins, and is characterised by an …

Niemann–Pick disease, type C (NPC) is a progressive autosomal recessive
neurodegenerative disease, characterized by late endosomal–lysosomal accumulation of …

Abstract Niemann-Pick Type C (NPC) disease is associated with accumulation of cholesterol
and other lipids in late endosomes/lysosomes in virtually every organ; however …

Niemann–Pick type C (NPC) is a lysosomal storage disorder that results in the accumulation
of cholesterol and sphingolipids. Mutations in the NPC1 or NPC2 gene are responsible for …

Niemann–Pick type C disease (NPC) is a childhood onset neurodegenerative disorder
arising from lipid-trafficking defects caused by mutations in the NPC1 or NPC2 gene. Marked …

J. Neurochem.(2011) 116, 789–795. Abstract Cholesterol is an important lipid of mammalian
cells. Its unique physicochemical properties modulate membrane behavior and it serves as …

Niemann-Pick type C (NPC) 1 disease is a rare neurovisceral disorder characterized by
progressive hepatosplenomegaly and central nervous system neurodegeneration (reviewed …

Niemann–Pick type C disease (NPC) is a devastating, recessive, inherited disorder that
causes accumulation of cholesterol and other lipids in late endosomes and lysosomes …

Niemann–Pick type C disease (NPC), a neurovisceral disorder characterized by
accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal …