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.
Calaméo - File Under Jurassic Rock - D temporary (2011)
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
Genetics Screening and Testing - Breda Genetics srl
PDF) Weekly Treatment of 2-Hydroxypropyl-β-cyclodextrin Improves Intracellular Cholesterol Levels in LDL Receptor Knockout Mice
Type a Niemann-Pick Disease
Breda Genetics srl - ITALY (@Breda_Genetics) / X
EMA-Data-Scratching-with-RSelenium/drug_df_EMA.csv at master · MiqG/EMA-Data-Scratching-with-RSelenium · GitHub
Niemann–Pick disease - Wikipedia
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Breda Genetics srl - ITALY (@Breda_Genetics) / X
IJMS, Free Full-Text
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Molecular mechanism(s) of neurodegeneration in Niemann-Pick type C disease - Ruđer Bošković Institute
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