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

Breda Genetics srl - ITALY (@Breda_Genetics) / X

Breda Genetics srl - ITALY (@Breda_Genetics) / X

Niemann-Pick disease - Breda Genetics srl Breda Genetics srl

Breda Genetics srl - ITALY (@Breda_Genetics) / X

Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders

Niemann-Pick disease: MedlinePlus Genetics

Breda Genetics srl - ITALY (@Breda_Genetics) / X

Mitochondrial dysfunction in fibroblasts derived from patients with Niemann- Pick type C disease - ScienceDirect

Breda Genetics srl - ITALY (@Breda_Genetics) / X

Niemann-Pick disease Information

Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States - ScienceDirect

Book Of Abstracts – KVIV - International Conferences

Breda Genetics srl - ITALY (@Breda_Genetics) / X