Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
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Descrição
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.
Genetics Screening and Testing - Breda Genetics srl
Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library
Niemann-Pick disease: MedlinePlus Genetics
Type a Niemann-Pick Disease
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Niemann-Pick Disease, Types C1 (D)
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family, BMC Neurology
EMA-Data-Scratching-with-RSelenium/drug_df_EMA.csv at master · MiqG/EMA-Data-Scratching-with-RSelenium · GitHub
E_Journal_March 2013 Part 1.pdf - Zaip.org
Molecular mechanism(s) of neurodegeneration in Niemann-Pick type C disease - Ruđer Bošković Institute
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States - ScienceDirect
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