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Abbreviation : NPB
Long Form : Niemann-Pick disease type B
No. Year Title Co-occurring Abbreviation
2019 Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene. iPSC
2018 Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer. DDA
2013 Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP. PTB-GULP, SM, SMase, SMPD1