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

Genetics Screening and Testing - Breda Genetics srl

Genetics Screening and Testing - Breda Genetics srl

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

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Breda Genetics srl - ITALY (@Breda_Genetics) / X

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

Niemann Pick Disease - Causes, Type, Symptoms, Treatment

Breda Genetics srl - ITALY (@Breda_Genetics) / X