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.

A Rational Approach to Drug

Mitochondrial Cholesterol in Alzheimer's Disease and Niemann–Pick Type C Disease

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

Niemann-Pick Disease, Types A and B

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

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Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library

E_Journal_March 2013 Part 1.pdf - Zaip.org

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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

Type a Niemann-Pick Disease

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Critical role for glycosphingolipids in Niemann-Pick disease type C: Current Biology

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