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.

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

EMA-Data-Scratching-with-RSelenium/drug_df_EMA.csv at master · MiqG/EMA-Data-Scratching-with-RSelenium · GitHub

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

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

PDF) Recent advances in ovulation synchronization and superovulation in dairy cattle

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect

Genetic Testing - NPUK

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

Niemann-Pick disease type C

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Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis