scholarly journals 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

2019 ◽  
Vol 37 ◽  
pp. 101436 ◽  
Author(s):  
Amanda Baskfield ◽  
Rong Li ◽  
Jeanette Beers ◽  
Jizhong Zou ◽  
Chengyu Liu ◽  
...  
Keyword(s):  
Pluripotent Stem Cell ◽  
Induced Pluripotent Stem Cell ◽  
Disease Type ◽  
Heterozygous Mutation ◽  
Type B ◽  
Stem Cell Line ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Induced Pluripotent ◽  
Pick Disease

scholarly journals Niemann-Pick Disease Type B Diagnosed in the Adulthood

2018 ◽  
Vol 23 (4) ◽  
pp. 322-324
Author(s):  
Sinan Demircioğlu ◽  
Celalettin Korkmaz ◽  
Hilal Akay Çizmecioğlu ◽  
Necdet Poyraz
Keyword(s):  
Disease Type ◽  
Type B ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset

2020 ◽  
Vol 99 (1) ◽  
Author(s):  
Maria Cristina Costanzo ◽  
Antonio Gennaro Nicotera ◽  
Mirella Vinci ◽  
Aurelio Vitello ◽  
Agata Fiumara ◽  
...  
Keyword(s):  
Disease Type ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Juvenile Onset ◽  
Niemann Pick Disease ◽  
Npc1 Gene ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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