The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage
disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical …

Abstract Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive,
neurodegenerative disease associated with a wide variety of progressive neurological …

Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …

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 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 …

Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease
characterized by progressive neurodegeneration and premature death. We report data …

Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to
disabling neurological manifestations and premature death. The estimated disease …

A randomized, controlled trial of miglustat indicated that miglustat (Zavesca®) stabilized
neurological disease over 12months in adult and juvenile patients with Niemann–Pick …

Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …