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Newborn Screening for Metabolic Disorders
Susan E. Waisbren, PhD
JAMA. 2006;296:993-995.
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Four million newborn infants will receive expanded screening for metabolic disorders in the United States each year; 12 000 will receive a false-positive screening result and more than 1000 will be diagnosed with a metabolic disorder.1-2 While frequent hospitalizations, developmental delay, mental retardation, and death will be prevented in many of these diagnosed children, many others will have a disorder that is mild or benign. Despite uncertainty, expanded newborn screening for a wide variety of rare disorders appears to be here to stay. Currently, 47 states mandate or offer expanded screening.3 The need for research on these conditions and screening programs has never been more pressing.
In this issue of JAMA, van Maldegem and colleagues4 report their findings on short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency occurring in 31 Dutch patients and describe the implications of these findings for newborn screening. These patients were identified because . . . [Full Text of this Article]
Author Affiliations: Children's Hospital Boston, Harvard Medical School, Boston, Mass.
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Bianca T. van Maldegem, Marinus Duran, Ronald J. A. Wanders, Klary E. Niezen-Koning, Marije Hogeveen, Lodewijk Ijlst, Hans R. Waterham, and Frits A. Wijburg
JAMA. 2006;296(8):943-952.
ABSTRACT
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