Expanded newborn screening.
The advent of expanded newborn screening has resulted in huge advances in the ability to detect presymptomatic infants with a large number of inborn errors of metabolism. Widespread implementation of this type of screening will ultimately lead to reduced mortality and morbidity from these diseases and also will increase our knowledge of the frequency and phenotypic variability for each of them.
Fearing
Marsha K
MK
Children's Hospital Boston, Harvard Medical School Genetics Training Program, Boston, MA, USA.
Marsden
Deborah
D
D005188:False Negative Reactions; D005189:False Positive Reactions; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening