Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

Molecular Genetics and Metabolism Reports

Volumn 3, Issue , 2015, Pages 55-57

  Chuang, Wei Lien ^a   Pacheco, Joshua ^a   Cooper, Samantha ^a   Kingsbury, Jonathan S ^a   Hinds, John ^b   Wolf, Pavlina ^a   Oliva, Petra ^a   Keutzer, Joan ^a   Cox, Gerald F ^a,c   Zhang, Kate ^a  

^a SANOFI   (France)

^b NORTHEASTERN UNIVERSITY   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Acid sphingomyelinase activity; Natural substrate; Niemann Pick disease type A B; Screening

Indexed keywords

SPHINGOMYELIN; SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME SUBSTRATE; FALSE NEGATIVE RESULT; FEMALE; GENOTYPE; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; SCREENING; SENSITIVITY ANALYSIS;

EID: 84927775614     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2015.04.001     Document Type: Article

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