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 ...
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 ...
Each year, specimen samples are collected from more than four million infants shortly after birth and sent to public health laboratories across the US. These samples are then tested for between 26 and ...
Newborn screening for PKU has allowed for early management of the condition, which serves to improve the prognosis in most cases. Research into PKU in adults has focused mostly on cognitive function; ...
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 ...
A special diet is the main treatment for phenylketonuria. Medications are also available. Treatment and monitoring is lifelong. Phenylketonuria (PKU) is an inherited condition where the amino acid ...
Lumos Diagnostics Holdings Ltd chief technology officer Dr. Sacha Dopheide talked with Proactive about the company’s ...
Sassy Sister Vibes on MSN
Woman adopts child with same rare condition: Managing PKU together
Growing up with a rare genetic disorder, Pam Kowalczyk often felt like no one truly understood her daily struggles. Years later, that sense of isolation changed in a life-altering way, when she ...
It’s dinnertime on a Wednesday evening in June at the Wards’ house in Whitman, Massachusetts. As Karen Ward calls her three kids to the table, her husband, Patrick, prepares a special plate for their ...
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