Niemann-Pick disease - Breda Genetics srl Breda Genetics srl

The eponym Niemann-Pick disease (NPD) encompasses two distinct metabolic defects. The first includes NPD types A and B and is due to deficiency of the acid sphingomyelinase (ASM) enzyme. The second defect, namely NPD type C, is mainly due to accumulation of unesterified cholesterol and glycosphingolipids within the late endosome/lysosome of all cells.

Critical role for glycosphingolipids in Niemann-Pick disease type C: Current Biology

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele - Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos

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Niemann-Pick disease Information

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

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Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library

An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family, BMC Neurology

Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage - ScienceDirect

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Niemann-Pick Disease Type C Treatment Market Size & Trends 2020- expected to reach US$ 378.8 Million With CAGR of 42.3% by 2027, Orphazyme A/S, Cyclo Therapeutics, Inc., and Johnson & Johnson