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.

Niemann-Pick disease: MedlinePlus Genetics

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Lysosomal acid lipase deficiency

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

Niemann-Pick Disease Concise Medical Knowledge

Recent advances in ovulation synchronization and superovulation in

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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

Niemann Pick Disease - Causes, Type, Symptoms, Treatment

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PDF) Weekly Treatment of 2-Hydroxypropyl-β-cyclodextrin Improves Intracellular Cholesterol Levels in LDL Receptor Knockout Mice

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