Ontology highlight
ABSTRACT:
SUBMITTER: Bali DS
PROVIDER: S-EPMC4674832 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Bali Deeksha S DS Goldstein Jennifer L JL Rehder Catherine C Kazi Zoheb B ZB Berrier Kathryn L KL Dai Jian J Kishnani Priya S PS
Molecular genetics and metabolism reports 20151201
Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the gold standard for determining CRIM status. Here, we evaluated CRIM status using peripheral blood mononuclear cell (PBMC) protein. For 6 of 33 patients (18%) CRIM status determination using PBMC was either indeterminate or discordant with <i>GAA</i> ...[more]