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
A Rational Approach to Drug
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family, BMC Neurology
PDF) Toriello-Carey like phenotipe associated with a complex intrachromosomal rearrangements on 4q
JCM, Free Full-Text
PDF) Toriello-Carey like phenotipe associated with a complex intrachromosomal rearrangements on 4q
JCM, Free Full-Text
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States - ScienceDirect
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Critical role for glycosphingolipids in Niemann-Pick disease type C: Current Biology
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 Concise Medical Knowledge
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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