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.

Genetics Screening and Testing - Breda Genetics srl

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

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

Niemann Pick Disease Type C - Symptoms, Causes, Treatment

Breda Genetics srl - ITALY (@Breda_Genetics) / X

Breda Genetics srl - ITALY (@Breda_Genetics) / X

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

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics

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