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

Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disorder resulting from
mutations in either the NPC1 (95%) or NPC2 (5%) genes. NPC typically presents in …

Niemann–Pick type C (NPC) disease is an inherited lipid storage disorder characterized by
the lysosomal accumulation of free cholesterol in affected cells. Three novel mutations in the …

Abstract The eponym Niemann-Pick disease (NPD) refers to a group of patients who present
with varying degrees of lipid storage and foam cell infiltration in tissues, as well as …

Niemann-Pick disease type C (NPC) is an atypical lysosomal storage disease resulting from
mutations in one of two genes, either NPC1 or NPC2. Although a neurovisceral disorder, it is …

Summary The concept of Niemann-Pick disease type C as a secondary sphingomyelin
storage disorder (in contrast to the sphingomyelinase-deficient types A and B) has become …

Patients with Niemann-Pick disease types C and D exhibit hepatosplenomegaly, foam cells
in the bone marrow, vertical gaze paresis, ataxia, and mental deterioration. In contrast with …

Abstract Prenatal diagnosis of Niemann–Pick disease types A and B is routinely
accomplished by sphingomyelinase assay. For Niemann–Pick type C disease …

The eponym" Niemann-Pick disease" includes two metabolically distinct entities. Niemann-
Pick type C (NPC) is characterized by unique abnormalities of intracellular transport of …

Niemann-Pick disease type C (NPC) is a fatal, autosomal recessive lipidosis characterized
by lysosomal accumulation of unesterified cholesterol and multiple neurological symptoms …