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.

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

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

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

PDF) Toriello-Carey like phenotipe associated with a complex intrachromosomal rearrangements on 4q

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

Niemann Pick Disease - Causes, Type, Symptoms, Treatment

Niemann–Pick disease - Wikipedia

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Genetics Screening and Testing - Breda Genetics srl

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

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