PT  - JOURNAL ARTICLE
AU  - Sally Kelly
AU  - Lucille Desjardins
AU  - Paul Armerding
AU  - Jean Burns
TI  - Phenotypes of Galactosaemia in Infants Screened at Birth
AID  - 10.1136/jmg.10.1.27
DP  - 1973 Mar 01
TA  - Journal of Medical Genetics
PG  - 27--29
VI  - 10
IP  - 1
4099  - http://jmg.bmj.com/content/10/1/27.short
4100  - http://jmg.bmj.com/content/10/1/27.full
SO  - J Med Genet1973 Mar 01; 10
AB  - Five genetic forms of galactosaemia were found in 15 infants identified in a newborn screening programme through a combination of laboratory criteria, involving serial assays of transferase and interpretation of isozyme patterns. The biochemical phenotypes of some infants were ascertained only weeks after birth, when transferase activities had increased from initial levels.