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.
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 disease - Wikipedia
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Molecular mechanism(s) of neurodegeneration in Niemann-Pick type C disease - Ruđer Bošković Institute
Genetics Screening and Testing - Breda Genetics srl
Niemann Pick Disease Type C - Symptoms, Causes, Treatment
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
Critical role for glycosphingolipids in Niemann-Pick disease type C: Current Biology
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