Niemann-Pick disease - Breda Genetics srl Breda Genetics srl

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

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