Ontology highlight
ABSTRACT:
SUBMITTER: Chuang WL
PROVIDER: S-EPMC4750609 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Chuang Wei-Lien WL Pacheco Joshua J Cooper Samantha S Kingsbury Jonathan S JS Hinds John J Wolf Pavlina P Oliva Petra P Keutzer Joan J Cox Gerald F GF Zhang Kate K
Molecular genetics and metabolism reports 20150417
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann-Pick disease types A and B. Using previously published multiplex and single assay conditions, normal acid sphingomyelinase activity levels (i.e. false negative results) were observed in two sisters with Niemann-Pick B who were compound heterozygotes for two missense mutations, p.C92W and p.P184L, in the SMPD1 gene. Increasing the so ...[more]