Inspired by his mentally disabled son, Robert Guthrie, MD, PhD, became a tireless advocate for individuals with intellectual handicaps. He devoted much of his career to researching the prevention of ...

It was 50 years ago this month that the Journal of the American Medical Association published a letter from Robert Guthrie, UB professor of pediatrics and microbiology, reporting on a new test for ...

A ground-breaking newborn screening test for phenylketonuria (PKU) will be launched by NovaUCD-based Enzolve Technologies later this week, following the granting of the CE Mark. Enzolve Technologies, ...

BALERNA, Switzerland-- (BUSINESS WIRE)--APR Applied Pharma Research s.a (APR), the Swiss developer of science driven and patent protected healthcare products, is pleased to share the success of a ...

Babies get tested for many things right after they are born. The heel prick includes a test for phenylketonuria (PKU), a rare birth defect that causes a certain amino acid to build up in the body. Dr.

The lives of Palestinian newborn babies in the blockaded Gaza Strip are at risk as the health authorities are unable to carry out testing for phenylketonuria (PKU), a hereditary disease, an official ...

The 12 HPA patients detected by neonatal PKU screening (Table 1) had normal amount of pteridine in urine or serum before BH 4 loading, and also had normal dihydropteridine reductase activity according ...

PKU is a rare congenital metabolic disorder that results in the accumulation of the amino acid phenylalanine in body fluids and the nervous system. The abnormal accumulation of amino acid in a child’s ...