Ontology highlight
ABSTRACT:
SUBMITTER: Greenberg CR
PROVIDER: S-EPMC1016068 | biostudies-other | 1992 Aug
REPOSITORIES: biostudies-other
Greenberg C R CR Jacobs H K HK Nylen T E TE Gibb M M Chodirker B N BN Moffatt M M Lacson A A Halliday W W Bernier F F el-Husseini A A
Journal of medical genetics 19920801 8
This report describes our first experience with a clinically important true false positive neonatal screening test for Duchenne muscular dystrophy (DMD). Neonatal screening for DMD began as a pilot programme in Manitoba on 1 January 1986 by analysis of creatine kinase (CK) activity in dried filter paper blood spots. To date, all except two males with positive initial and follow up neonatal CK screening tests were subsequently diagnosed as having DMD. Of these two, one was a newborn male with con ...[more]