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.
E_Journal_March 2013 Part 1.pdf - Zaip.org
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
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
Breda Genetics srl - ITALY (@Breda_Genetics) / X
PDF) Weekly Treatment of 2-Hydroxypropyl-β-cyclodextrin Improves Intracellular Cholesterol Levels in LDL Receptor Knockout Mice
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Recent advances in ovulation synchronization and superovulation in
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