۳۰ آبان، ۱۴۰۱


Other names of galactosemia Classic galactosemia Epimerase deficiency galactosemia Galactokinase deficiency disease Galactose epimerase deficiency Galactose-1-phosphate uridyl-transferase deficiency disease GALE deficiency GALK deficiency GALT deficiency UDP-galactose-4-epimerase […]
۲۳ آبان، ۱۴۰۱

Phenylketonuria (PKU)

Phenylketonuria, also called PKU, is a rare inherited disorder that causes the body to build up an amino acid called phenylalanine. PKU is caused by mutations […]
۱۵ آبان، ۱۴۰۱

Robert Guthrie, father of newborn screening

Dr. Robert Guthrie introduced the newborn screening test for phenylketonuria (PKU), a fatal disease in young children, in the early 1960s in the US for the […]
۸ آبان، ۱۴۰۱

History of newborn screening

The origins of Newborn Screening (NBS) date back to the 1950s and 1960s, when Dr. Robert Guthrie developed a blood test to screen newborns for phenylketonuria […]