The phenylketonuria (PKU) test is a diagnostic tool used to test infants for phenylketonuria a few days after birth. PKU is an autosomal recessive inborn error of ...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...

1 National Newborn Screening & Genetics Resource Center, 1912 W Anderson Lane #210, Austin, TX78757, USA. 2 University of Texas Health Science Center at San Antonio, Department of Pediatrics, 7703 ...

Researchers in Germany recently evaluated executive functions in 36 patients who were diagnosed with PKU during childhood. Significant negative correlations were observed between elevated childhood ...

QUESTION: A friend of mine has a child who has a metabolic disorder that wasn’t diagnosed with routine newborn screening even though screening for the disorder does exist. How could that happen?

SAN RAFAEL, Calif., Sept. 24, 2020 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (NASDAQ: BMRN) announced today that it has dosed the first participant in the global PHEARLESS Phase 1/2 study with BMN ...

—Researchers in Germany recently analyzed several parameters related to bone metabolism in plasma, serum, and urine—as well as tracked dietary habits and lifestyle factors—in a cohort of adults with ...

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 ...