Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
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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.
Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
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 - Wikipedia
Niemann-Pick Disease, Types C1 (D)
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
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Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
IJMS, Free Full-Text
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Niemann-Pick Disease Type C Treatment Market Size & Trends 2020- expected to reach US$ 378.8 Million With CAGR of 42.3% by 2027, Orphazyme A/S, Cyclo Therapeutics, Inc., and Johnson & Johnson
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Niemann-Pick disease: MedlinePlus Genetics
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Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders
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