Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

By B. Wilcken, V. Wiley, J. Hammond, K. Carpenter. New England Journal of Medicine, 2003

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High incidence of later-onset fabry disease revealed by newborn screening. (2006, background): “Newborn screening has proven so effective in identifying and treating infants with inherited metabolic disorders that efforts are under way to expand the disease menu by employing tandem mass spectroscopy, which can detect 140 disorders.(42,43) Efforts also are under way to develop high-throughput n”
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. (2003, background): “(123) in their discussion contradict their abstract by stating that “the diagnosis of cases that might never come to clinical attention should not be used as an argument against this expanded program of newborn screening”.”