| Molecular heterogeneity for PKU results in wide phenotypic heterogeneity, which contributes to biochemical individuality. |
| The three main laboratory methods used to screen newborns for PKU are the Guthrie bacterial inhibition assay, fluorometric analysis and tandem mass spectrometry. |
| Under the tutelage of Dr. Charles Scriver, she created a registry of female patients with PKU, a genetic disorder that can put the foetus of an affected woman at risk for congenital malformation. |
| Discovery of new candidate genes for ovarian cancer, novel enzyme treatment for PKU, early identification of retinoblastoma. |
| He also developed and instituted a method of examining the blood of newborn infants to screen them for a number of inherited biochemical conditions, such as PKU and hypothyroidism, allowing early and effective treatment. |
| Examples are present screening of newborns for PKU, hypothyroidism, with immediate treatment. |
