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Lysosomal storage diseases Niemann-Pick type

Cholesterol storage in lysosomes/endosomes is a hallmark of Niemann-Pick type C disease. The assay is based on the procedure described by Vanier et al. [58]. [Pg.370]

Niemann-Pick diseases. These are also classified as lysosomal storage diseases. There are two main distinct sub-families type A (NP-A) and type B (NP-B), both caused by defects in the acid sphingomyelinase gene. Further type C diseases are caused by defects in a gene involved in LDL-cholesterol homeostasis, identified as the NPCl gene. [Pg.146]

See other pages where Lysosomal storage diseases Niemann-Pick type is mentioned: [Pg.472]    [Pg.51]    [Pg.441]    [Pg.460]    [Pg.393]    [Pg.594]    [Pg.351]    [Pg.797]    [Pg.601]    [Pg.446]   
See also in sourсe #XX -- [ Pg.795 ]



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