Let's start from the start: A review of Dr. Robert Guthrie's 1963 paper on PKU screening
03/12/21 • 25 min
It all started with a pediatrician's desire to save newborn babies from a rare but devasting metabolic disorder. But, Dr. Robert Guthrie's elegantly simple screening test for PKU (phenylketonuria) started a movement that has improved or saved the lives of countless newborn babies around the world.
It all started with a pediatrician's desire to save newborn babies from a rare but devasting metabolic disorder. But, Dr. Robert Guthrie's elegantly simple screening test for PKU (phenylketonuria) started a movement that has improved or saved the lives of countless newborn babies around the world.
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The application of tandem mass spectrometry to NBS for amino acids and acylcarnitines - An interview with David Millington
For the 30 years following Dr. Robert Guthrie's invention of a PKU screening test newborn screening tests were limited in number. That all changed when biochemists at Duke University first applied tandem mass spectrometry to solve a puzzling clinical case. The result changed the way the newborn screening community thought about adding new screening tests.
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