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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
(2023)
Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 and NPC2 genes. NPC ...
Gadolinium Chloride Rescues Niemann–Pick Type C Liver Damage
(2018)
Niemann–Pick type C (NPC) disease is a rare neurovisceral cholesterol storage disorder
that arises from loss of function mutations in the NPC1 or NPC2 genes. Soon after birth, some patients present with an aggressive ...
Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease
(2012)
Niemann-Pick type C (NPC) disease is a neurovisceral atypical lipid storage disorder involving the accumulation of cholesterol and other lipids in the late endocytic pathway. The pathogenic mechanism that links the ...
Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease
(2012)
Niemann-Pick type C (NPC) disease is a neurovisceral atypical lipid storage disorder involving the accumulation of cholesterol and other lipids in the late endocytic pathway. The pathogenic mechanism that links the ...
Lysosomal vitamin E accumulation in Niemann-Pick type C disease.
(2012)
Niemann-Pick C disease (NPC) is a neuro-visceral lysosomal storage disorder mainly caused by genetic defects in the NPC1 gene. As a result of loss of NPC1 function large quantities of free cholesterol and other lipids ...
Lysosomal vitamin E accumulation in Niemann-Pick type C disease.
(2012)
Niemann-Pick C disease (NPC) is a neuro-visceral lysosomal storage disorder mainly caused by genetic defects in the NPC1 gene. As a result of loss of NPC1 function large quantities of free cholesterol and other lipids ...