Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
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Last updated 28 fevereiro 2025
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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.
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Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016 - Journal of Neurochemistry - Wiley Online Library
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Niemann Pick Disease - Causes, Type, Symptoms, Treatment
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Lysosomal acid lipase deficiency
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Niemann-Pick disease: MedlinePlus Genetics
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Breda Genetics srl - ITALY (@Breda_Genetics) / X
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Book Of Abstracts – KVIV - International Conferences
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JCM, Free Full-Text
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Breda Genetics srl - ITALY (@Breda_Genetics) / X
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Niemann-Pick disease Information
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A Rational Approach to Drug
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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
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Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library
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Breda Genetics srl - ITALY (@Breda_Genetics) / X
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