Results 21 to 30 of about 3,396,540 (313)
The Progress and Future of US Newborn Screening
International Journal of Neonatal Screening, 2022 Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding and
Michael S. Watson +2 more
semanticscholar +1 more source
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories
International Journal of Neonatal Screening, 2022 Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS).
Michael H. Gelb +25 more
semanticscholar +1 more source
Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report [PDF]
, 2009 Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic ...
Massie, John H. +11 more
core +1 more source
Next-Generation Sequencing in Newborn Screening: A Review of Current State
Frontiers in Genetics, 2021 Newborn screening was first introduced at the beginning of the 1960s with the successful implementation of the first phenylketonuria screening programs. Early expansion of the included disorders was slow because each additional disorder screened required
Ž. I. Remec +7 more
semanticscholar +1 more source
Newborn Screening Is on a Collision Course with Public Health Ethics
International Journal of Neonatal Screening, 2022 Newborn screening was established over 50 years ago to identify cases of disorders that were serious, urgent, and treatable, mirroring the criteria of Wilson and Jungner.
R. Currier
semanticscholar +1 more source
Early Check: translational science at the intersection of public health and newborn screening
BMC Pediatrics, 2019 Background Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of ...
Donald B. Bailey +23 more
doaj +1 more source
International Journal of Neonatal Screening, 2023 Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early ...
Birgit Odenwald +4 more
doaj +1 more source
SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba
Journal of Inborn Errors of Metabolism and Screening, 2016 The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ...
Ernesto Carlos González Reyes PhD +12 more
doaj +1 more source
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
International Journal of Neonatal Screening, 2021 X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder.
Jamie Matteson +5 more
semanticscholar +1 more source
International Journal of Neonatal Screening, 2020 Newborn Bloodspot Screening (NBS) has existed for over 60 years, having been initiated by Guthrie in the U.S. In the Philippines, NBS was introduced in 1996 and later was supported by legislation. The NBS program now includes 29 conditions, covering 91.6%
Carmencita D. Padilla +9 more
doaj +1 more source